Category Archives: Clinical Nutrition

Pregnancy: The Best Detox You Should Never Have.

 

In day-to-day conversation, announcing a pregnancy for a woman or couple can be met with happiness, congratulations, apprehension at times, and the simple acceptance that a baby is happily growing, awaiting a healthy arrival into the world. Difficulty conceiving, miscarriage, infertility and fertility treatments are topics that can remain unspoken for many during the time of announcing a pregnancy. For most women and men, their reproductive stories are rarely straight forward, interspersed with loss, contraception, relationship changes, careers, possibly illness and of course, absolute joy.
The journey of potential parenthood is often not straightforward. Practitioners of Complementary Medicine and those integrating this into their life are already aware just how important preconception care is for mothers and fathers to be. Preconception care should ideally take at least 6 months for both men and women, longer if specific health issues are of concern.

We already know that preconception care is essential to establish the following facets of health, ideally before conception takes place:

  • To identify and correct any maternal or paternal nutritional deficiencies
  • To identify and treat any unresolved illness in parents, as much as possible
  • To minimise or even eliminate exposure to environmental toxins, especially those affecting spermatogenesis (sperm production), oogenesis (egg production) and embryogenesis (development of the early embryo; first 12 weeks of gestation).
  • To eliminate exposure to environmental toxins known to accumulate in various human body tissue, for example, heavy metals.
  • Preconception care is essential to the health of all growing families, no matter the level of health experienced by parents. Preconception care maximises the nutritional status of both parents and stabilises the genome. Both allow for the transfer and inheritance of healthy genes. Though not a cure for profound heritable genetic disorders, preconception care can help to minimise some signs/symptoms in families for whom this is a problem.
  • Detoxification is a significantly important topic in preconception, prenatal and antenatal health. However, did you know just being pregnant induces a state of physiological detoxification in the mother? This topic is rarely discussed, even in complementary and orthodox medicine. This is a concern for a number of reasons:

1) Detoxification can actually be initiated very simply and effectively in the preconception phase; harsh methods are not required for its efficacy. It is an excellent form of preventive medicine. Detoxification should take place in the preconception phase, and ideally, well before conception.

2) Pregnancy (due to the action of the placenta) induces a state of physiological detoxification for the mother. Many health practitioners are unaware of the full extent of placental physiology, and the role of the placenta in maternal detoxification. A potential gap may exist in the education of practitioners with regards to this topic.

3) The health of a growing embryo and baby relies on lack of exposure to harmful environmental substances, PLUS those released from maternal tissue storage. They may inadvertently be exposed to such substances in utero, simply via healthy placental function.

The unknown process of pregnancy detoxification
The concept of pregnancy being a physiological process of detoxification remains relatively unknown. This is especially the case regarding general health information aimed at pregnant women. An internet or Google search looking for pregnancy as a form of detoxification will yield no results. The only information gleaned from such a search advises women not to undergo detoxification whilst pregnant or nursing. This advice is absolutely correct; detoxification can release substances stored in tissues that can be harmful to unborn babies, and infants or toddlers who are being breastfed. A closer examination of placental structure and function can explain the physiology behind this process.

The placenta is an exchange organ that requires sufficient and continual access to the maternal circulation. The establishment of such access is a critical process of the first trimester. Maternal erythrocytes (red blood cells, RBC’s) are present in the foetal circulation, though significant maternal RBC’s are not observed until 10-12 weeks gestation. Studies show conversions of blood vessel architecture in both the uterus and placenta toward the end of the first trimester. Additionally, glandular secretions from the uterus supply most nutrients (maternal proteins, carbohydrates and glycogen (from which glucose is derived) and lipids), plus non-nutrient growth factors of early pregnancy. This then progresses toward a more haemotrophic (blood derived) contribution as maternal arteries begin to supply nutrition. This process in essential in establishing a continual nutrient and energy supply for the growing foetus.

For a maternally derived molecule to access the foetal circulation, it must cross several layers of materno-placental tissues, which are selective and tend to regulate the passage of various substances to the foetus.

Placental anatomy and paternal genes
The formation of the placenta is truly remarkable; there is no other time in life when a human acquires a completely new organ, only to be expelled at the end of a pregnancy. The paternal genome of the baby’s father has a major influence on placental development; these genes preside over the building of the placenta. Thus, fathers are not exempt from preconception care practices. They provide half of their baby’s genetic material, and the majority of the genes required for building this vitally important organ.

Placental Physiology: metabolism, transfer and endocrine secretion
Put simply, the human placenta has three main roles during pregnancy:

1) To transfer nutrients (water, simple sugars, fatty acids, amino acids, vitamins, minerals and electrolytes) from mother to baby, via blood circulation. It is known as an exchange organ.

2) The synthesis of hormones, peptides (very small proteins) and steroids required to sustain growth. It functions as an endocrine organ.

3) Metabolism. Metabolic waste products from the baby are transferred in the same way to the mother for removal. It performs the waste removal functions of the lungs, the kidneys and the liver, all of which are immature in the developing foetus.

Pregnant women and babies in utero are exposed to a large variety of xenobiotic substances. The concept of the placenta acting as a complete physical barrier, protecting the foetus from all harm is false. It is known that most pharmaceutical drugs administered during a pregnancy cross the placenta to some extent. Specific chemical properties determine just how easily a substance can cross the placenta:

Chemical Properties

Lipid solubility: Highly lipid soluble molecules cross the placenta more easily. Some pharmaceutical drugs including aminoglycosides and some environmental toxins.

Protein binding: Non-protein bound substances cross the placenta more easily. They are biologically active and retain pharmacologic/toxic effect

Molecular weight: Low molecular weight substances cross the placenta more easily. Examples include many pharmacological agents. Any molecule < 900 daltons in size, Methylmercury, lead DDT and nicotine.

 

Physiological exchange from maternal to foetal circulation occurs via the following processes:

Passive diffusion: gases (O2, CO2, CO), H2O, H2O soluble vitamins cross faster than lipid soluble vitamins, glucose, small amounts of free fatty acids, electrolytes (Na+, K+, Cl-, Ca2+ and Mg2+). Diffusion occurs in both directions from mother to baby and the reverse.
Transport-protein mediated passage: solutes are transferred at a rate much greater than that of diffusion. Many amino acids are transported in this way.
Endocytosis and exocytosis: Endocytosis occurs when a maternally derived molecule is ‘trapped’ within a small pouch formed by specific placental cell membranes, forming a vesicle. The contents of these vesicles may then be released or ejected into the foetal environment via exocytosis. Antibodies, unconjugated steroid hormones and infectious agents (particularly viruses) readily cross the placenta via this transport mechanism.
Solvent drag/bulk flow: this drives water transfer, with water-soluble solutes being dragged along.
The placenta is a selective barrier and does prevent the passage of maternal hormones and other substances from crossing the placenta. Additionally, a cache of cytochrome P450 (CYP) enzymes (the same detoxification enzymes present in liver tissue) are active in placental tissue. These are more restricted than those observed in liver tissue, though several drugs and foreign substances are detoxified here.

“This combination of efflux transporters and defensive enzymes provides a degree of protection to the fetus against exposure to potentially noxious xenobiotics, although many drugs and chemicals can still cross and act as teratogens”.

– Burton, G. et al. Placental anatomy and physiology. In: Obstetrics: Normal and Problem Pregnancies, 7th ed. Elsevier.

Conclusion

Molecules that are without chemical charge, lipophilic (lipid-soluble), minimally protein bound and of a low molecular weight are known to cross the placenta to the foetal circulation. Some pharmaceutical drugs and environmental toxins belong to this chemical category. Many environmental toxins may have been stored in maternal adipose tissue before well before pregnancy, hence the importance of detoxification prior to conception and pregnancy. Some substances are known teratogens, harmful to growing babies and may also be linked to growth restriction. The enhanced elimination physiology of pregnancy is possibly beneficial for mothers, but undesirable for growing babies. The ideal situation is that any man and women of reproductive age where a pregnancy is possible should consider following:

1. Completely avoid nicotine and recreational drugs. Some substances are linked to foetal growth restriction and can be stored in adipose tissue long-term.

2. Assess exposure to environmental toxins via your occupation, residence, beauty/grooming practices or hobbies. Limit this exposure as best as you can.

3. Limiting environmental exposure is not practical 100% of the time. Nutritional, dietary and detoxification interventions with a professional health practitioner early in the preconception phase is an ideal way to minimise risk.

References

1. Syme M, Paxton J and Keelan J (2204). Clinical Pharmacokinetics.43: 487.
2. Myllynen P, Pasanen M and Vahakangas K (2007). The fate and effects of xenobiotics in human placenta. Expert Opinion in Drug Metabolism and Toxicology. 3(3):331-46.
3. Kozlowska R, Czekaj P. Ginekol Pol . Barrier Role of ABC facility of proteins in human placenta (2011). 82(1): 56-63.
4. Burton G, Sibley C and Jauniaux E. Placental anatomy and physiology. In: Obstetrics: Normal and Problem Pregnancies, 7th ed. Philadelphia: 2017; Elsevier, 2-25.
5. Castillo J and Rizack T. Special issues in pregnancy. In: Abeloff’s Clinical Oncology. 5th ed. Elsevier Churchill Livingstone; 2014, 914-25.

– See more at: https://kidshealth.com.au/pregnancy-best-detox-never/#sthash.wmbpsaeu.dpuf

Metabolic Disorders: Part I

Annalies Corse BMedSc, BHSc, Masters Candidate (USYD).

 

Question anyone on the concept of metabolism, and you will surely receive responses supporting that everyone knows about it. Young children learn of its existence at school; science students worldwide study the intricate metabolic reactions of living cells and the general public speaks this technical term during social banter around food and weight. However, metabolism is a facet of human health involving far more than the breakdown of food or the production of energy. Metabolism, and the biomedical understanding of metabolic disorders is one of the five pillars of health supporting the philosophy behind the MINDD Foundation. Over a series of articles, these five pillars will be presented and discussed to help you understand the importance of each for human health, including the biomedical, nutritional and lifestyle measures to improve your own health, your family’s health and safeguarding the health of generations to come.

 

Research and education into the role of Metabolic disorders in Pediatric health is fundamental to the work of the MINDD Foundation. This two part article serves to explain the importance of metabolism to our overall state of health, list the conditions associated with errors in metabolism (including the cause of such errors) and what can be done to prevent the potentially devastating consequences of errors of metabolism.

 

Definition of Metabolism

 

Metabolism occurs at the cellular and even subcellular level within tiny structures known as organelles. It is usually defined and interpreted in biochemical terms, where all reactions of the metabolic system are considered together.  In the most simplistic definition, metabolism is defined as the sum total of all chemical reactions in the body. Metabolism is comprised of:

 

  • Anabolism: chemical reactions where substances are synthesized or ‘built up’. For example: the synthesis of hormones, new tissue and antibodies, to name a few.

 

  • Catabolism: chemical reactions where substances are degraded or ‘broken down’. For example: the breakdown of food for energy production and the generation of metabolic waste products such as ketones, urea and lactate to name a few.

 

Therefore, every single chemical reaction in your body is part of your metabolism. Every useful chemical substance your body makes for you, and every waste product generated is part of your metabolism. These metabolic reactions differ depending on which organ of the body you are looking at. For example, the reactions of thyroid metabolism are completely different from reactions in skeletal muscle; every tissue and organ has a completely different role to play and their metabolic chemical reactions reflect this. Your metabolism represents far more than just weight loss and weight gain.

 

Errors in Metabolism +Causes

 

Inborn errors of metabolism are a very large group of rare and congenital disorders of metabolism, where babies are born with a genetic defect involving a specific aspect of their metabolism. These conditions are usually inherited. Most are due to single genetic mutations, where the faulty gene leads to the production of a faulty enzyme. The faulty enzyme produced is unable to catalyze its specific chemical reaction in the body (each enzyme in the human body is highly precise and usually only facilitates one specific chemical reaction). The resulting problems are incredibly varied, depending on the gene and enzyme product involved. Some conditions can be managed well, while others can be lethal errors. Depending on the actual condition inherited, symptoms can range from acute and late-onset acute, through to progressive, generalized and permanent symptoms.

 

List of Conditions

 

There are hundreds of inherited metabolic disorders, and most are exceedingly rare. As a whole, metabolic disorders usually involve a gene/enzyme product involved in:

 

  • Carbohydrate metabolism: these are usually detected in infancy and cover a vast range of conditions where specific aspects of carbohydrate metabolism are impaired. Energy production in vital organs can be severely compromised. Depending on the exact problem, these conditions are often supported by dietary interventions. Some better-known examples in this category are galactosaemia, lactose intolerance and glycogen storage diseases.
  • Amino acid metabolism: these metabolic conditions involve either the synthesis of vital amino acids, or impairment of amino acid degradation. These are so many diseases in this category, however Phenylketonuria (PKU), Homocysteinuria and Maple Syrup Urine disease are some well-known examples. If a vital amino acid is not synthesized, it is unavailable for its many roles within the body. If an amino acid is not degraded properly, it can build up, causing damage to specific tissues and organs. Dietary interventions are often used to abate the effects of these diseases.
  • Organic acid metabolism: these involve the branched chain amino acids (isoleucine, leucine and valine). If a specific amino acid cannot be broken down, its build-up can lead to academia (dangerously low blood pH) and vital organ damage. Specific dietary interventions are required, and these often commence in infancy.
  • Fatty acid metabolism: many enzymes are required to break down fatty acids for energy; a problem with any one of these enzymes is known as an inborn error of lipid (fat) metabolism. Some involve carnitine (which helps transport fatty acids to your mitochondria for energy production), while others prevent correct lipid storage. Yet another vast category.
  • Mitochondrial metabolism: these have a huge array of presentations, but ultimately involve impairment of mitochondrial function and ultimately the production of energy as a whole.
  • Porphyrin metabolism: porhyrin rings are specific chemical structures found in vital substances such as haeme (predominantly found in red blood cells) and cytochromes (found in mitochondria for energy production and also in hepatic tissue for detoxification). When not synthesized or degraded properly, they are classified as metabolic diseases known as Porphyrias. It is believed that Pyrrole Disorder may belong to this category.
  • Purine and pyrimidine metabolism: purines and pyrimidine’s are essential chemicals produced by the body and contribute to the structure of DNA, RNA and energy molecules such as ATP to name just a few. Defective enzymes governing purine and pyrimidine metabolism affect the normal sequences of human DNA, meaning harmful mutations are common in this group of metabolic diseases.
  • Peroxisomal metabolism: peroxisomes are organelles involved in breaking down very long chain fatty acids for energy.
  • Steroid metabolism: human steroid hormones include oestrogen, progesterone, testosterone, cortisol, and aldosterone. All steroid hormones are derived from cholesterol. Each condition varies, depending on the exact enzyme and hormone involved. Disorders of secondary sexual characteristics, ambiguous genitalia and adrenal insufficiency all come under this category.
  • Lysosomal storage diseases. Lysosomes are organelles, and can be described as the recycling centre of the cell. Unwanted substances can be converted into useful substances for a cell by lysosomes. Metabolic disorders involving lysosomes result in the accumulation of cellular waste, leading to cellular and organ damage.

 

Due to the overwhelming number of metabolic disorders, diagnosis in a clinical setting can be difficult. The range of signs and symptoms that could possibly present is enormous. In general, infants and children who present with the following signs/symptoms may be investigated for a congenital metabolic disease, depending on their entire clinical picture and medical case history:

 

  • Failure to thrive
  • Growth failure
  • Developmental delay
  • Delayed or precocious puberty
  • Ambiguous genitalia
  • Seizures
  • Cardiac issues: cardiac failure, myocardial infarction and both high and low blood pressure
  • Skin: abnormal pigmentation, lack of pigmentation, excess body hair growth
  • Some childhood cancers
  • Hematological issues: low platelets, low red cell count, splenomegaly and lymphadenopathy
  • Diabetes
  • Musculoskeletal pain, weakness and cramping
  • Congenital malformations, especially involving facial features

 

In part 2 of this article: treatment and prevention, and where to seek help for metabolic disorders.

 

References

 

  1. Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den (2013-03-14). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. p. 4. ISBN9783662031476
  2. Jorde, et al. 2006. Carbohydrate metabolism. Medical Genetics. 3rd edition. Chapter 7. Biochemical genetics: Disorders of metabolism. pp139-142
  3. Ogier de Baulny H, Saudubray JM (2002). “Branched-chain organic acidurias”. Semin Neonatol. 7 (1): 65–74.
  4. Rosemeyer, Helmut (March 2004). “The Chemodiversity of Purine as a Constituent of Natural Products”. Chemistry & Biodiversity 1 (3): 361–401.
  5. Mark A. Sperling (25 April 2008). Pediatric Endocrinology E-Book. Elsevier Health Sciences. p. 35.
  6. Vernon, H. (2015). Inborn Errors of Metabolism. Advances in Diagnosis and Therapy. JAMA Pediatrics. 169(8): 778-782

Metabolic Disorders: Part II

 

Metabolic Disorders: Part Two

 Annalies Corse BMedSc, BHSc

Written for and originally published by the MINDD Foundation: www.midd.org

 In Part One of this article, the breadth of metabolic disorders was discussed. The important take away points from Part One included the following:

  • Metabolism is the sum total of all chemical reactions in the human body. Referring to metabolism by a simple reference to weight loss and weight gain is not entirely correct.
  • Metabolism consists of thousands of chemical reactions, where chemical entities are either synthesized for the body (anabolism), or broken down by the body (catabolism).
  • Metabolic reactions are accomplished by enzymes. Functionality of these enzymes is critical to your health, and is governed by your genes.

Treatment of Metabolic Disorders

As discussed in part one, the vast majority of metabolic disorders are genetic. They are heritable and exceptionally atypical. Most are autosomal recessive conditions, meaning that an affected child would need to inherit two copies of a faulty gene, one from each parent. Each parent would be a carrier of the faulty gene, and would likely be unaware of their genetic carrier status. Each carrier parent has one functional copy of the gene, and one faulty copy. The functional gene copy will correctly synthesize its enzyme product and compensate for the faulty gene + enzyme. No signs or symptoms of disease would be present for the parents.

The autosomal recessive inheritance pattern of metabolic disorders does prove problematic for prevention. Most parents are unaware they are carriers of specific genetic mutations, and the likelihood of having a child with a partner carrying the same mutation is exceedingly rare; too rare for pre-natal genetic screening of all babies to be necessary or feasible. In reality, the genetic mutation would have occurred many generations ago, and has been passed on through families, often undetected. Additionally, there are literally hundreds of metabolic disorders, and all require their own unique treatment approach; there is no blanket clinical protocol for treatment.

If a metabolic disorder is inherited, treatment options usually follow this clinical pattern:

  • If a specific food, drug or amino acid cannot be metabolized properly, its intake must be reduced or completely eliminated.
  • Enzymatic replacement of the faulty enzyme. This is only an option if enzymatic replacement (usually in the form of a medication) of the faulty enzyme actually exists.
  • Removal of toxic substances that accumulate via the faulty metabolic pathway.
  • Specific diets can remove specific macro or micronutrients that are not metabolized correctly.
  • Specific micronutrient supplements can support faulty metabolic pathways, depending on the specific metabolic disease in question.
  • Specific drug treatments to detoxify the blood of toxic metabolic by-product may be possible, depending on the disease in question.

As you can appreciate, altering diets to such a significant extent to reduce the possibility of other deficiencies and to prevent further illness requires the assistance of medical and nutritional experts.

 Prevention of Metabolic Disorders

Searching for information on the prevention of metabolic diseases is often fraught with frustration, as most sources will lead you to information regarding how to combat and prevent the metabolic syndrome (i.e., the cluster of conditions involving insulin resistance, obesity, dyslipidaemia and type II diabetes mellitus). Additionally, metabolic disorders are inherited, thus prevention is often deemed to be impossible, as they are inherited genetic disorders.

 Despite this, there are ways of eating and living life that are known to protect DNA and enhance the correct replication of DNA (thus preventing further mutations and even providing the healthiest genome possible to your future off spring). Whilst they may not prevent 100% of metabolic disorders in affected families, these strategies seek to safeguard the general health of all individuals and support healthy genes, from their replication through to gene expression. Additionally, well functioning organs and tissues will support treatments for metabolic disorders, and will have all affected individuals well placed to experience the best health the possibly can. This is the science of nutrigenomics; the “Genome-Food Interface”.

  • Cease all cigarette smoking and address excessive alcohol consumption. Both are known to have detrimental effects on our genes and how they function. Seek help to find ways to abstain from cigarettes permanently.
  • Many nutrients regulate gene expression, including folate, zinc, EPA and DHA to name just a few. Seek assistance from a health professional specializing in clinical nutrition and wholefood eating to formulate eating plans high in genome protecting nutrients.
  • Phytochemicals such as flavonoids, carotenoids, coumarins and phytosterols are also known to regulate gene expression. This is simple; eat lots of fruit and vegetables in abundance, everyday. This is especially important for both men and women in their reproductive years.
  • Healthy levels of folate, vitamin B12, niacin, vitamin E, retinol, and calcium are linked to decreased levels of DNA damage; riboflavin, pantothenic acid, and biotin are associated with an increase in DNA damage to the same extent observed with occupational exposure to genotoxic and carcinogenic chemicals. Do not self-prescribe supplements and gather information from integrative health professionals before considering supplementation.

 Where to seek assistance

 Many countries employ newborn screening programs to investigate the presence of metabolic disorders at birth. For example, screening for PKU forms part of the newborn screening panel. The diseases chosen for screening at birth have met certain clinical criteria for their inclusion in screening; the testing is reliable and non-invasive, and the treatment is straightforward and life saving. Many metabolic conditions do not manifest clinical signs at birth and are diagnosed in infancy or even later once evident signs and symptoms appear. In most cases, infants and children will be under the care of a specialist Paediatrician, and one who sub-specializes in specific metabolic conditions.

 Children and adults with metabolic disorders will require lifelong care and can often become ill very quickly. It is essential that they receive care from both their medical specialists and ideally an integrative doctor with their allied health teams. The MINDD Foundation is an excellent resource for locating doctors, nutritionists, naturopaths, pharmacists, dieticians and nurses experienced in the treatment of these rare and high-care diseases.

 “There is increasing evidence that genome instability, in the absence of overt exposure to genotoxicants, is itself a sensitive marker of nutritional deficiency”.

–Michael Fenech, CSIRO Genome Health and Nutrigenomics Laboratory

 References

 

  1. Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den (2013-03-14). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. p. 4. ISBN9783662031476
  2. Jorde, et al. 2006. Carbohydrate metabolism. Medical Genetics. 3rd edition. Chapter 7. Biochemical genetics: Disorders of metabolism. pp139-142
  3. Meade, N. (2007). Nutrigenomics: The Genome-Food Interface. Environmental Health Perspectives. 115 (12): A582-A589.
  4. Ogier de Baulny H, Saudubray JM (2002). “Branched-chain organic acidurias”. Semin Neonatol. 7 (1): 65–74.
  5. Rosemeyer, Helmut (March 2004). “The Chemodiversity of Purine as a Constituent of Natural Products”. Chemistry & Biodiversity 1 (3): 361–401.
  6. Mark A. Sperling (25 April 2008). Pediatric Endocrinology E-Book. Elsevier Health Sciences. p. 35.
  7. Vernon, H. (2015). Inborn Errors of Metabolism. Advances in Diagnosis and Therapy. JAMA Pediatrics. 169(8): 778-782

 

 

 

 

 

Supplements: Hype, or Helpful?

 

Supplements: Hype, or Helpful?

 Annalies Corse BMedSc, BHSc

Written for and originally published by the MINDD Foundation: www.midd.org

In an ideal world, people all over the world would be able to obtain the nutrition they require from diet alone. So many factors (no matter what country you live in) make this very unrealistic in the modern age. Some people simply don’t have access to food, and food supplements are essential to their health. For those of us in wealthier countries, there are several environmental, genetic and clinical reasons why seeking supplement prescription may be necessary for your health. Many supplements are purely born of health fads and hype, but some are essential. In certain cases, supplements are life saving, and provide us with the kind of health that we cannot achieve through diet alone. Consider some of the following situations, as all are legitimate reasons as to why supplements are necessary for many modern humans:

  • The quality of our soils is not what it used to be. Foods grown in soil depleted of nutrients, trace minerals and healthy soil microbes has a direct impact on plant, animal and human health.
  • Our world is more polluted. Soil, water, air, the workplace and households expose us to heavy metals and other pollutants. A healthy diet will undoubtedly protect us from most of the harm these can cause, but specific supplements are essential to support our endogenous detoxification systems.
  • Our own health history plays a huge part in our need for nutrient supplementation. Damage to the digestive system through leaky gut antibiotic exposure, refined carbohydrate diets, caesarean section birth, substance and medication use all increase our requirements for nutrients that may not be addressed through diet alone.

Do you know all the important factors you must consider before you embark on taking a food, vitamin or mineral supplement? Have you asked yourself these essential questions?

  • Have I been advised to take this supplement on the advice of a qualified health professional?
  • Will this supplement interact with my current medications?
  • Will this supplement be ok, based on the other supplements I currently take?
  • Has this supplement been formulated based on good quality control practices?
  • Is there clinical and scientific evidence for this supplement?
  • What else is in my supplement, besides the active constituents and ingredients?
  • Could I achieve my health goals in another way?
  • Is the formulation and dosage correct for my condition, life stage and age?

Obviously, all of this is a lot to consider, especially if you are not a health professional. No one should be expected to know the answers to these questions regarding supplements, that is why it’s essential not to self prescribe and to only commence supplementation after consultation with a Naturopath, Nutritionist, Dietician or a Doctor or Pharmacist with specific education in nutrition. There is abundant hype when it comes to nutritional supplements; the amount of celebrity endorsements for over the counter (OTC) supplements attests to this. Let’s take a look at which supplements are hype, which are helpful, and exactly why this is the case.

 OTC supplements from retail environments

Some are well formulated, but some are not. What is in their favour?

  • Most are affordable
  • You can purchase quickly on the spot

What is not in their favour?

  • Often sold without any consultation with a health professional
  • Many are cheap due to poor quality ingredients
  • Formulations may not have clinically relevant levels of the vitamin or mineral required

There are some excellent OTC supplement products, but always seek assistance from a professional who has studied them. Many practitioners recommend retail ranges, but they do so based on objective clinical opinions. If a store or clinic only supplies 1 or 2 brands, it’s a sign to be wary of. Good, objective clinical practice means prescription based on formulations, not brands. Companies not associated with health at all manufacture some OTC supplements for commercial reasons. It is definitely an area where you will be exposed to more hype that help. Ask a professional for their advice first.

Practitioner only supplements

Regarding supplements, these are the gold standard. These are formulations based on excellent quality control practices, years of education, clinical experience and thorough case taking. Depending on the situation, they can be prescribed in a pharmacy or retail setting, but only by a Naturopath, Nutritionist, Doctor or Pharmacist with extra training. In an ideal world, they should only be prescribed after an appointment with a health professional. A word of advice must be given to those with extensive or chronic health issues; purchasing a supplement after a quick chat with a practitioner will probably not be enough time to ascertain exactly what will be the best protocol for your health, going forward. In virtually every case (acute or chronic) it is much better to sit down with a practitioner, so they can thoroughly go through your medical history, diet and medications history.

So, are practitioner only supplements hype? Mostly, not! They are formulations often put together based on studies, human biochemistry and nutraceuticals research. There are definitely times where you will not be required to take supplements long term, just a short course may be needed. If you have a great diet, you will likely not need to supplement any nutrient long term.

A special word of advice must be given to supplements containing herbal medicines. Herbal medicine is a highly specialised area of complementary medicine, and it takes years of education to be thoroughly effective and safe with prescription. They should never be prescribed by those with no education or expertise in herbal medicine, so avoid purchasing from any person or professional who does not have a specific qualification in herbal medicine.

Supplements purchased online

When purchasing a supplement online, there are two significant issues people face. Firstly, many will not be part of a therapeutic regulatory process, where only sound and good quality medicines and supplements make the grade and are deemed safe for the public. Some contain dubious ingredients, and there is a risk of purchasing something with negligible therapeutic action. The actual doses of vitamins and minerals may be too low or poorly formulated to provide any benefit.

You may find that some well-known retail or even practitioner only brands are available online. Again, if you access these without advice from a health professional, there is high probability they won’t be perfectly suited to you. This is where many people experience disappointing results from supplements.

Tip: Consider how much money you spend every few months on your hair, on coffees or at cafes and restaurants. A consultation with a complementary health professional once or twice a year is a huge investment in your health. You will avoid the supplements that are just hype, and you will have access to a professional who will spend ample time getting to the initiating factors of your health issues.

Food based supplements

Food based supplements cover the spectrum of powders, liquids, gels, drinks, shakes and snacks. The array of food supplements seems to multiply every month, but there are ways to be savvy and avoid hype. Ask yourself these questions before potentially parting cash on something that sounds fantastic, but may not do much for you:

  • Could I just spend money on real food? Will a powdered fruit and vegetable product be any better than fresh produce?

Fresh is always best, and so much more delicious. Many vitamins are exceedingly delicate, and there is no guarantee they have remained active or viable in a food supplement. Consider how processed the food supplement is first, before you purchase.

  • I eat really well, a wholefood diet with ample fruit and veg, good quality fats and protein. But I’m still not experiencing the health I desire, and this food supplement is apparently great for my problem.

 There are other ways to achieve good health without supplementation, and other areas apart from diet that contribute to poor health. Before reaching for the latest super food powder, be honest with yourself or with a practitioner about your sleep, stress levels, physical activity levels and lifestyle practices. Supplements may rightly still be required, but you might need less than you think.

A good health professional will always prescribe supplements when the benefit they have for your personal clinical condition or health matter outweighs any risk. Your health provider should be able to state exactly the reasons for taking a supplement, and they will follow up with you to measure your outcome. It is often not necessary for most people to be on long courses of supplementation; some people with specific health conditions will be, but they are monitored very regularly to assess if the supplementation needs to change. In conclusion, supplementation is only helpful when professionally prescribed. Any thing else runs a risk of exposing us to a fad. Health fads come and go, as do some supplements. Good health practitioners are acutely aware of this. Always source their expertise before potentially wasting your money. Modern living definitely makes us somewhat vulnerable to nutrient depletion, so ensure you are taking the right supplements at the right dose to protect you and your family’s health In to the future.

 

References

 

  1. Brevik, E. C. & Burgess, L. C. (2014) The Influence of Soils on Human Health. Nature Education Knowledge 5(12): 1

 

  1. Harvard T. H. Chan School of Public Health. (2016). The Nutrition Source. Available at: http://www.hsph.harvard.edu/nutritionsource/

 

  1. Herbert, V. (1973). The Five Possible Causes of Nutrient Deficiency: illustrated by deficiencies of Vitamin B12 and folic acid. The American Journal of Clinical Nutrition. 26 (1): 77-86.

 

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What is Mitochondrial Disorder?

 

Mitochondrial Disorder
Annalies Corse BMedSc, BHSc

The phrases Mitochondrial Disease, Mitochondrial Dysfunction, or even merely the term mitochondria in general, can be confusing, evoke fear and leave any parent or carer utterly frustrated when these foreign words are diagnostically attached to their unwell child. When did children’s health move on from coughs, colds, ear infections and scraped knees? Are mitochondrial disorders something that most children need to be routinely tested for? Why are some children being investigated when others are not?

This article aims to explain what Mitochondrial Disorders are, from the cellular level, to the population level and particularly how they may present at the individual level. Treatments and support from both a Medical and Naturopathic approach will be highlighted, with advice on accessing professional assistance to care for, manage and support any individual living with a Mitochondrial Disorder. Research into mitochondrial disorders grows every year. Consequently, this means more knowledge and support than ever before, translating into an improved quality of life for children diagnosed with these conditions.

Cells need a Battery

An understanding of the role of mitochondria is the first step in knowing how dysfunctional mitochondria affect us. The human body thrives on the chemical and electrical energy produced within our cells. To produce this energy, our cells contain tiny sub-cellular organelles (“little organs”), which extract significant amounts of energy from ingested nutrients, in order to power each individual cell and the human body as a whole. These organelles are our Mitochondria. Without them, energy production would cease and all cellular functions would be compromised.

All cells in the human body contain mitochondria, with the exception of red blood cells. It’s a huge reflection of their importance for correct cellular function. The total number of mitochondria within cells varies from fewer than one hundred towards the thousands, depending on the type of cell and its energy requirements. Mitochondria are an elongated bean shape, with two bi-layered membranes constructed of lipid (fat) and protein. One of these membranes is highly folded and is nestled inside the mitochondria forming neat shelves. Sitting on these shelves are the enzymes responsible for two major biochemical pathways for extracting energy from food. These pathways are known as the Citric Acid Cycle and Oxidative Phosphorylation. Energy produced in these two mitochondrial pathways will then be used to synthesize the extremely high-energy molecule, adenosine triphosphate (ATP). ATP then spreads within the cell, releasing energy where required to support cellular functions.

Signs and Symptoms of Mitochondrial Disorders

As mitochondria are located in nearly all cells (hence, almost all organs) of the body, the signs and symptoms of their diseases can mean two things. Firstly, mitochondrial dysfunction can affect multiple organ systems. Secondly, diagnosis may be a lengthy process. The more dependent an organ is on energy, the more profound the symptoms of mitochondrial dysfunction will be.

The signs and symptoms of dysfunctional mitochondria are described in medical terms are protean, meaning they are very variable, easily and continually changing. Again, because the signs and symptoms involve multiple organs, the clinical presentation of these children can be very non-specific, affecting the diagnostic process for the medical profession. A mitochondrial disorder may not be suspected until significant progression has occurred.

Additionally, the variable and changing nature of such disorders is a source of great frustration for parents and carers, who want some control over, or insight into what ameliorates or deteriorates their child’s health. Supporting the health of these children involves a whole body approach, as many organs may be compromised

Organs that are incredibly dependent on energy for optimal function include skeletal muscles, the brain, the eyes, cardiac muscle (the heart), the liver and the kidneys. The following table presents some of the signs, symptoms and known conditions associated with mitochondrial disorders.

Organ Type, Signs, Symptoms and Some Known Conditions

Skeletal muscle: Skeletal Muscle Pain, fatigue, weakness, myopathy, delayed or poor developmental milestones. In infants: poor feeding, poor head control, poor physical coo-ordination MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes)
Neural Tissue: (Brain) Seizures, headache, loss of intellectual function, similarities to stroke, movement disorders Leigh’s Disease, MELAS, dyspraxia, autism
Eyes Compromised vision and eye muscle movement, ptosis Leber Hereditary Optic Neuropathy (LHON)
Cardiac Muscle (Heart): Cardiomyopathy and heart rhythm disturbances Cardiomyopathy
GIT: Constipation, diarrhoea, reflux, pain, cramping, difficulty swallowing Seen as symptoms within many other mitochondrial disorders
Kidneys: Dehydration, lethargy, poor urine output Renal failure
Pancreas Hypoglycaemia Diabetes

The Genetic Impact

The term Mitochondrial Disease is just that, a term. It is actually a name applied to greater than one hundred different genetic disorders that all harm mitochondrial function. As these conditions are genetic disorders, they are subject to all the complexities of inheritance patterns, tracing faulty genes and the emerging science of epigenetics in order to try and understand them.

As described earlier, mitochondria are subcellular organelles, but what makes them so unique is they are the only known organelles containing their own DNA. DNA is normally only found in the cells nucleus. It’s the molecule we all know as the bearer of our genetic code, passed from one generation to the next.

Mitochondrial DNA (mtDNA) consists of 37 known genes. Genes are a code or a “recipe” instructing our cells to manufacture various chemical substances. Some mtDNA contains genes coding for enzymes involved in energy production reactions. Other mtDNA genes are not so “local”. They govern the formation of RNA (DNA’s cousin), which is responsible for translating the information in ALL our genes into fully functional, healthy cellular processes.

mtDNA is subject to the same damage as DNA in all our cells. Mutations can occur. Mutations in the mtDNA will produce a faulty gene and compromise the eventual healthy role of that gene in the body. With mtDNA being genetic material, it can be passed on, from one generation to the next. There are over 1500 hundred known mutations that contribute to mitochondrial disease, some within mtDNA itself and some within nuclear DNA.

From an inheritance standpoint, mitochondria in our body is inherited from our mother, that is, mitochondrial DNA is passed from mother to child, regardless of the child’s gender. The mother’s mtDNA may carry mutations. Not all of the mother’s mtDNA is mutated, so as her egg combines with the sperm and the cells divide, significant amounts of mixing, dilution and mosaic spreading of genetic material occurs.

The level of damaged mtDNA versus unaffected DNA varies. As cells differentiate and develop, the types of cells affected (cardiac, brain, digestive, muscular etc.) will govern the severity and type mitochondrial disease symptoms an individual will inherit. The presentation is also generational, meaning that individuals in each generation in the same family can have a different mitochondrial disease. Due to the mosaic pattern of spread and the way that different systems are affected, each individual may have very different symptoms, with variable severity. This is another reason why the mitochondrial disorders can be so hard to identify; they are so different from one generation to the next that they don’t appear inherited. For instance mitochondrial dysfunction might be the driving force behind a grandmother’s heart issues, her daughter’s Irritable Bowel Syndrome and her grandson’s Autism.

It must also be mentioned that some mitochondrial mutations are spontaneous and not inherited. Other mutations linked to mitochondrial disease are from nuclear DNA, which can be inherited from either the mother or the father.

The presentation of these illnesses in the population is very deceptive, with the precise incidence of mitochondrial disease unknown. Worldwide statistics have changed noticeably over time, but conservative estimates from recent Australian research states approximately 1 in 250 people will carry a mitochondrial genetic defect – that equates to approximately 90,000 Australians. Not all of these individuals will develop disease or display symptoms.

Environmental Impact

Without question, there are vast amounts of scientific evidence linking environmental factors with damaged DNA. The following list provides a brief summary of these factors:

Heavy Metals. The following heavy metals have been implicated in genetic damage. Avoiding them during the pre-conception and pregnancy phase is so important, along with your family as they grow. Men need to minimize exposure in the pre-conception phase just as much as women.
Mercury (Hg) Naturally occurring, but human exposure is associated with ingestion of contaminated fish and dental amalgam. Arsenic (As) Naturally occurring, may be found in food, water and treated wood
Cadmium (Cd) Mining, cigarettes, soil, use of phosphate fertilisers.
Lead (Pb) Possibly drinking water, soil, dust and treated wood. Lead (Pb): paint (old houses, old toys), house dust, car exhaust, art/craft materials, plumbing and construction materials.
Aluminium (Al) Cookware, canned food, antiperspirants, aluminium containing antacids

Other chemicals. Pesticides: mainly found in food and water. Pesticides are known to cause DNA damage, including DNA within ova and sperm. Polychlorinated biphenyl (PCB’s) are one well known chemical culprit. They are found in old electrical equipment and insulation. Occupational exposure can be a major source of contact with these chemicals.
Clostridium infection. There is some evidence that this genus of bacteria may be linked to mitochondrial disease. Tetanus, Botulism, Colitis and antibiotic associated diarrhea may all be linked to various species of Clostridium.
Inadequate nutrition. Lack of good quality proteins, specific fatty acids, choline, inositol, antioxidant vitamins/minerals/phytochemicals, folate, CoQ10, vitamin B12, other B vitamins can all contribute to mutations in DNA and dysfunctional mitochondria. While it may seem hopeless, disheartening and a lost battle, there is so much we can do with nutritional medicine to preserve our genetic resilience and reclaim the health of ourselves our children and their families. The most powerful and effective way to achieve this is through proper nutrition. Getting back to correct nutritional principles and avoiding hype and spin is not only simple, but enjoyable. The use of nutrition for mitochondrial disease is not utilized enough and it could be much more an established part of the future approach for preventing and managing these illnesses.
Testing

The pathology testing available for mitochondrial disease diagnosis ranges incredibly from routinely requested blood and urine tests performed every day, to highly specialized blood and urine tests and muscle biopsies. Routine pathology tests include liver function tests, blood glucose levels, full blood counts, kidney function tests and antibody levels. More specialized pathology tests include screening blood, urine or cerebrospinal fluid (CSF) for red cell minerals, specific enzymes, amino acids, fatty acids, metabolic wastes and substances indicative of altered cellular metabolism and poor mitochondrial function. Muscle biopsies may also be performed.

The more specialised pathology tests are requested by Paediatricians with expertise in mitochondrial disorders. Children under investigation for mitochondrial disorders are referred to these Paediatricians via their GP. Both orthodox and integrative medical Paediatricians use these tests when they suspect that a mitochondrial disorder may be the underlying reason for the child’s health problems.

From a Complementary Medicine perspective, other testing may be useful. This may include IgG food sensitivity testing, complete digestive stool analysis, hair tissue mineral analysis and IgE allergy testing.

Treatments

There are no long-term studies that dictate an exact or all-encompassing treatment for mitochondrial dysfunction. Every child’s presentation is so highly variable and each child will have different needs in order to prevent relapses and manage their symptoms.

The main focus of medical treatment is to repair the profound deficiency in energy. This means attempting to deliver medications and nutrients to the right location within the mitochondria, which is difficult. Despite the difficulties, there are many strategies used to assist with the alleviating symptoms that are known to improve treatments and significantly help these children:
Targeted physical therapy and exercise
Adequate rest
Astute use of nutritional medicine at the dietary level
Administration of nutrient co-factors for the deficient biochemical pathway
From a Naturopathic perspective, the use of nutritional medicine, nutrient co-factors as supplementation and phytomedicine are the modalities used to greatest effect. Wise referrals and a mutually respected integration with medical staff, the family, carers and most importantly, the child themselves become our priorities moving into the future with these very special children.

Top 10 Tips for Protecting Mitochondria and DNA

Remove processed foods from the diet. Eat wholefoods. A good tip is not to eat food your great grandmother would not recognise.
Filter your water.
Eat organic where possible, particularly animal products.
Minimise exposure to chemicals in your hobbies or occupation. Protect your body.
Remove processed, low-fat foods from the diet.
Eat good quality, organic, full fat products in their natural form, avoiding those with added sugars.
Focus on: nutritious fats, nutritious proteins, clean fruits, vegetables, nuts, seeds and legumes.
Consult a professional for supplementation: don’t self prescribe
Address addictions: caffeine, tobacco, alcohol, sugar, prescription drugs (if safe to do so) and recreational drugs.
Minimise exposure to electromagnetic radiation and chemicals as much as possible.
Specific nutrients are associated with a powerfully protective effect on DNA, hence supplementation may be required. Anti-oxidant vitamins and minerals, specific B complex vitamins, co-enzymes and certain amino acids are essential for protection of genetic material, healthy cell division and replication.

Managing the symptoms of mitochondrial disease can also be achieved through judicious use of nutrition. Self-prescribing is not recommended and does not achieve adequate clinical results. Professionals such as Naturopaths, Nutritionists and Doctors trained in Nutrition have expertise in effective and safe supplementation. They can help you with finding solutions to transitioning to healthy eating, for you, your partner and your children.

Where to seek Nutritional Help

Practitioners who are listed with the MINDD Foundation as recommended practitioners are all health professionals with additional training in genetic, immune and metabolic disorders. Ask a Naturopath, Nutritionist or Integrative GP if they have expertise in this area. If it’s not their area of expertise, they should be able to refer you.

Image Source: Victoria College

The Paleo Diet: Fact or Fad?

 

Humans are social creatures, we love sharing our time, opinions and ideas with others. We enjoy looking to others for inspiration, and we like to experiment with everything from how we dress, what we study to what we eat and hobbies we enjoy. Inevitably, this leads to the phenomenon of the fad, that social construct which seemingly appears from nowhere, but is suddenly everywhere. Whilst fads are obvious when it comes to fashion, they are very pervasive when it comes to food, diet and nutrition. Every year could be crowned with the title of a particular diet. In 2015, it was most certainly the Paleo Diet.

When it comes to fashion, fads are not particularly harmful (unless you consider 12-inch high heels and the man bun as dangerous to health). Fashion fads do not need to be based on fact; they are simply creative expressions that people find attractive. On the other hand, diet fads (whether you like it or not) are inextricably linked to science, evidence and fact. Some diet fads have no scientific basis whatsoever; others do. As a consumer, you probably do not want to trawl through medical and scientific journals to back up your decision to try a diet. You would rather read a recipe book or a new diet book showing you how to eat according to this new diet straight away. Who wouldn’t? These books are much prettier to look at, easier to understand and relaxing to read than any medical journal. Let’s take a look at the Paleo diet, and examine some of the evidence behind 2015’s most popular diet.

Well before the term paleo started appearing in the scientific literature of the 80’s, other clinicians and scientists studied the effects of the typical western diet, comparing them to primitive diets and their effects on health. The most notable of these include Nutrition and Physical Degeneration, A Comparison of Primitive and Modern Diets and Their Effects by Dr Weston Price (1939), Primitive Man and His Food by Arnold DeVries (1952), The Stone Age Diet by Walter Voegtlin (1975) and Boyd Eaton’s The Paleolithic Prescription (1988).

Fast-forward to 1991, and medical journals started to accumulate research supporting that how our Paleolithic ancestors not only ate, but also lived should form the foundations of how to treat modern disease. Modern epidemics of metabolic syndrome, cardiovascular disease, cancer and inflammatory diseases (the non-infectious diseases) were clearly the plagues of modern man, with diet firmlyplaced at the center of the debate. The idea of lifestyle medicine was born.

Evidence for the Paleo diet mainly comes in the form of anecdotal evidence. This is your own, personal experience. If you lost weight, improved your sleep, cured your acne, or were able to safely discontinue your cholesterol or diabetes medications on a Paleo diet, science wont really be interested. In science, we need studies in animals, human tissues, large populations or controlled trials to be sure that a hypothesis (theory) has been tested extensively, and accurately. Since 2007, studies have started to accumulate, looking specifically at the paleo diet. Their greatest success appears to be in attaining a health body weight and improving health in those with metabolic syndrome (obesity, elevated fasting blood glucose, elevated blood triglycerides and high blood pressure). Evidence in other conditions, such as dementia, Autism, cancer and autoimmune disease is ongoing.

Counter evidence against the principles of the Paleo diet (particularly that is was devoid of dairy) has been published since 2014, with dairy proteins having been isolated from the dentalcalculus (plaque) in ancient dental fossils. Some anthropologists are also reminding us that there would be no one type of paleo diet, as our ancestors would have had a very limited diet, which would have varied depending on where they lived in the world. Additionally, their ancient fruits and vegetables would have been virtually unrecognizable to us and nothing like our modern edible plant based foods.

There is no denying that the Paleo diet is indeed a nutritional fad. It shows all the hallmarks of a modern trend including blogs, Instagram feeds, celebrity endorsements, recipe books, treats and snacks all devoted to this way of eating. Despite the fact that it’s fashionable at present, the Paleo diet is not in the same category as other harmful nutritional fads of years gone by, such as the cabbage soup diet, the lemon detox diet or the baby food diet. There is some scientific evidence to support the health claims of the Paleo diet, but will that be enough for us to remain loyal followers of this nutritional paradigm? Modern man loves nothing more than looking out for the next big thing. Only time will tell if the Paleo diet will be remembered as a trend, or the diet that saved its modern followers from a future of chronic disease.

References
1 Alberti KG, Eckel RH, Grundy SM, et al. Harmonizing themetabolic syndrome: a joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, andBlood Institute; American Heart Association; World Heart Federation; International Atherosclerosis Society; andInternational Association for the Study of Obesity. Circulation. 2009; 120(16):1640-5.

2 Eaton, S. and Konner, M (1985) Paleolithic Nutrition. A consideration of its nature and current implications. New England Journal of Medicine. 312(5): 283-9.
3 Huang PL. A comprehensive definition for metabolic syndrome. Dis Model Mech. 2009; 2(5-6): 231-7.
– See more at: http://thefitbusymum.com.au/the-paleo-diet-fact-or-fad#sthash.g8ZxcY3A.dpuf

Image credit: Centre for Dance Nutrition