MTHFR mutation

Homocysteine and folate deficiency

High homocysteine level is associated with neurological disorders such as Alzheimer’s disease, macular degeneration, hearing loss and even migraines. In addition, individuals with high homocysteine levels are at a 3-fold increase in risk for premature cardiovascular disease. 

The majority of individuals with high levels of homocysteine carry the MTHFR variation, which decreases up to 66% of the body ability to metabolize folate (vitamin B9).

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Folate is a vitamin also known as vitamin B9, and folic acid. It plays a role in DNA synthesis, repair and replication, and deficiency of this vitamin leads to anemia, and other symptoms such as weakness, headaches,  irritability, and behavioral disorders.

Folate is also needed for DNA methylation- a tool that regulates gene activity, allowing proper development and response to environmental changes. Methionine is a dietary amino acid that serves in methylating DNA. In the process, methionine becomes homocysteine. Folate is responsible for converting homocysteine back into methionine, which allows to methylate DNA by the body needs. 

Deficiency in folate leads to high levels of homocysteine. High homocysteine level results in developmental disorders such as neural tube defect in embryos. Among adults, it is associated with neurological disorders such as Alzheimer’s disease, macular degeneration, hearing loss and even migraines. In addition, individuals with high homocysteine levels are at a 3-fold increase in risk for premature cardiovascular disease.

Gene: METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR)

Genomic coordinates (GRCh38): 1:11,785,729-11,806,102

The MTHFR enzyme catalyzes the conversion of one form of folate to another form, which is able to convert homocysteine into methionine.

A common variant in the MTHFR gene decrease about a third of the enzyme’s activity. Homozygotes (Carriers of two copies of the variant) ability to convert folate is decreased by two thirds.

The genetic factor accounts for more than 50% of cases with high homocysteine levels. Studies found that the majority of individuals with high levels of homocysteine carry the MTHFR variation, and were not consuming enough folate.

 

Homozygotes for this frequent mutation must have sufficient folate intake, by diet and by supplementation. Scientists found that daily supplement of low-dose folic acid will reduce and often normalize their homocysteine levels. 

 

Synthetic folate is known as folic acid, and is commonly used to fortify various food items.

Carriers of the variant should make sure that the levels of other B vitamins are adequate as well. Vitamin C consumption along with folate improves folate’s bioavailability. Elevated consumption of beer and other alcoholic beverages was found to decrease absorption of B vitamins.