Updated: Dec 10, 2020
Do you suffer from chronic health problems such as thyroid disease, autoimmunity, depression, cardiovascular disease or infertility? Chances are that you may be one of the 40% of the population that is affected by the methylenetetrahydrofolate reductase (MTHFR) genetic variation (or mutation).
Of the 20,000 or so genes in the human body, MTHFR is the gene responsible for producing the MTHFR enzyme which converts folic acid (or vitamin B9) into the active form of folate, methylfolate (5MTHF), and is responsible for an important biochemical reaction in the body, called methylation. Methylation occurs in every cell in the body, and is responsible for processing toxins and hormones, repairing damaged cells, ensuring optimal DNA cell function, metabolizing B vitamins, and regulating neurotransmitters that control our mental health and mood.
Having the MTHFR variation is linked to a decreased ability to effectively detoxify, and it is implicated in many chronic health conditions such as Alzheimer’s disease, cancer, thyroid disease, autoimmunity, and many others.
We know now from an emerging science called ‘epigenetics’, that our genes aren’t as static as we once believed them to be, and can in fact, be turned on and off, largely by environmental factors. Simply put, this means that our genes are not our destiny, and the way that we live our lives can have a huge impact on whether or not certain genetic variations will be expressed.
Identifying if you have this common genetic variation is the first step to minimising its’ potential negative effects on your health. There are several ways to test for an MTHFR variant, and probably the easiest is a simple genetic test, which just requires a saliva sample. The two most well known MTHFR gene SNP’s (single nucleotide polymorphisms) are C677T and A1298C, and it is possible to have variations in either one (heterozygous) or both (homozygous) of either of these alleles. The more SNP’s you have, makes the MTHFR enzyme less able to do it’s job, decreasing the ability of the body to methylate, therefore increasing your chances of negative health consequences. Taking specific pre-methylated B vitamins may support the body to methylate more effectively.
For individuals with chronic health conditions, who test positive for MTHFR, it is also advisable to test for heavy metals, as they could be the root cause of their health problems. This is because of the body’s diminished ability to methylate or therefore detoxify heavy metals from our system.
Working with a Registered Nutritional Therapist is recommended to help you get to the bottom of your health concerns. Functional and genetic testing can be arranged, so you can begin targeted personalised therapy.
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