What is MTHFR?
The MTHFR nomenclature (methylenetetrahydrofolate reductase) stands for both the enzyme and the gene. If the gene has no mutation (wild type), the body can produce sufficient levels of functioning MTHFR enzyme to convert inactive folic acid to active folate (5-MTHF) to be used for the many biochemical processes and pathways in the body. It is critical for in maintaining good health.
Since enzyme activity largely depends on shape, the mutated gene will produce a distorted and hence dysfunctional enzyme leading to some loss of enzymatic activity and subsequent downstream health issues. The most common MTHFR gene mutations are at the 677C>T and 1298A>C.
Who Should Be Tested?
Anyone experiencing the following symptoms: heart attack, stroke and blood clots, peripheral neuropathy, miscarriages, depression, fibromyalgia, chronic fatigue syndrome, migraines, IBS (Irritable Bowel Syndrome), Dementia, OCD, Bipolar, and Schizophrenia. Anyone can be and should be tested for these most common and far reaching SNPs with many negative effects on health. This especially includes pre-natal couples with history of miscarriage and those with elevated homocysteine levels, or a family history of cardiovascular disease, depression and other psychiatric illness.
Identifying which mutation, if any is present, will help guide the clinician in which direction to best treat their patient. The mutations we identify are below and point to specific areas of need.
Mutation 677 C>T –This mutation is most commonly associated with: Cardiovascular disease including heart attack, stroke and blood clots; as well as peripheral neuropathy, miscarriages, neural tube defects (spina bifida) and other congenital birth defects.
Mutation 1298 A>C – This mutation is most commonly associated with: chronic disease, e.g. depression, fibromyalgia, chronic fatigue syndrome, migraines, IBS (Irritable Bowel Syndrome), Dementia, OCD, Bipolar, Schizophrenia, and more.