The New Science of Epigenetics

By Trevor Chetcuti on 18 Jul 2014
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The concept of epigenetics has been around for a long time now. The term was derived from the word ‘epigenesis’ and coined by Conrad Waddington in 1942.

Epigenetics refers to the expression of our genetics which can change through various influences without necessarily changing our actual genetic (DNA) structure.

Various elements have reported to have an effect on our epigenetic expression. Stress, foods, infections and toxins are just some of the substances that may affect our genetic expression. The altering of these genes has been suggested to be linked to various conditions such as diabetes and cancer.

“Whilst the field of epigenetics is still rapidly growing, there are some areas that have already had a significant amount of research. Most significantly is the area of methylation.”

Methylation is a process that involves the attaching or un-attaching of methyl groups (CH3) from various genes. These methyl groups are usually derived from the conversion of an amino acid known as Homocysteine into various important biochemical substances required for life.

Accordingly, these include our brain neurotransmitters, thyroid hormones, detoxification proteins, sulphur and antioxidants. In fact methylation is one of the most important biochemical reactions that occur in the human body.

The most significant amount of research has been done on one gene in particular. This gene encodes for an enzyme known as the Methyltetrahydrafolate Reductase (MTHFR) enzyme.

The Research

The MTHFR enzyme is responsible for the activation of folate. That is, it is responsible for converting folate (folic acid) into its active form within the human body known as Folenic acid and eventually into Methyltetrahydrafolate (MTHF).

The MTHFR gene can undergo damage in various ways. The two most common areas of damage are specifically responsible for folate metabolism. Therefore, when damaged these can significantly reduce the ability for the body to use MTHF in everyday function.

Over the years of research the two areas have become known as locations 677 and 1298. Changes to these areas are known as either heterozygous (partial) or homozygous (complete).  The most significant of the two is the 677. Homozygous change at 677 has been shown to decrease folate metabolism by approximately 70 per cent especially if the 1298 is also altered.

This severe reduction in MTHF production has started to be linked with various health conditions such as miscarriage, fatigue, detoxification problems, oxidative stress issues, cardiovascular problems, infertility, high levels of homocysteine, mental illness and stroke to name a few.

“Being aware of changes to genetic function and expression can allow for lifestyle changes to be put in place to negate many of the detrimental effects of this and various other polymorphic problems.”

MTHFR testing is now available through your GP along with the HLA DQ2 and DQ8 polymorphisms that place people at high risk for celiac disease if they continue to eat gluten.

A more comprehensive genetic profile is available through Smart DNA ( here in Melbourne. Simply a small amount of saliva is all that is required to assess 100 DNA changes! The process is relatively inexpensive and has provided a wealth of information that can go a long way to helping you understand how your body functions.

For more information on MTHFR gene mutation head to or as per always, feel free to email me at [email protected]

About the Author

Dr Trevor has a passion for helping people that goes beyond what most people expect. He has a knack for getting to issues quickly and an amazing knowledge for all things health and wellbeing. With extensive study in areas such as Physiology, Nutrition, Supplementation, Applied Kinesiology, Neuro Emotional Technique and Chiropractic, Dr Trevor's skills at working with a wide range of health and performance issues have become widely respected.

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