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DNA AbstractMTFHR Testing 


Are you feeling like your behind the 8 Ball ? Finding it hard to recover? Been all around town and no-one can understand your condition  ?

If the answer is Yes you may be a poor Methylator and  you may have a mutation in a particular gene  called MTFHR

Let me Explain further .


The MTHFR Gene

The MTHFR gene, technically referred to as Methylenetetrahydrofolate reductase, is a key enzyme required to metabolise homocysteine. Mutations of the MTHFR gene may cause elevated blood levels of homocysteine which has been implicated in a wide variety of conditions.

The most common mutation in the MTHFR gene is called C677T. Individuals with two copies of this mutation, i.e. one inherited from their mother and one from their father, are called homozygotes. This occurs in 5-10%
of the population and these individuals are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate.

A second mutation in the MTHFR gene, called A1298C, has also been implicated in high blood levels of homocysteine when found in conjunction with the C677T mutation.

High blood levels of homocysteine are recognised as a risk factor for:

• Coronary artery disease • Venous thrombosis & stroke • Type 2 diabetes • Obesity

High homocysteine levels in the blood have also been associated with:

• Neural tube defects • Recurrent miscarriage • Autism spectrum disorders • Stillbirths • Depression & other mood disorders

The main causes of high homocysteine levels are folate deficiency, insufficient B12 and genetic mutations in the MTHFR gene.




The MTHFR gene encodes an enzyme in the methylation cycle (See Fig 1).

MTHFR (‘5,10-methylenetetrahydrofolate reductase’) converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, and is an important cofactor in the biosynthesis of SAMe (S-adenosyl methionine), the primary methyl donor involved in regulating gene expression.

Fig 1 – The Methylation Cycle:  Taken from http://www.currentpsychiatry.com/fileadmin/cp_archive/images/1201/1201CP_Ramsey-fig1.jpg

Courtesty Healthscope Australia

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