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What Is the MTHFR Gene?
The MTHFR gene (short for methylenetetrahydrofolate reductase) plays a critical role in how the body processes folate, a B vitamin essential for cell growth and repair. This gene helps convert folate into its active form through a process called methylation. Methylation affects everything from DNA synthesis and repair to detoxification and neurotransmitter production. Because it’s so foundational, even minor changes in the MTHFR gene can have far-reaching effects on health.
Common Variants and Their Impact
There are two common polymorphisms—or genetic variations—of the MTHFR gene: C677T and A1298C. These variants can reduce the enzyme’s function, sometimes by up to 70%. When this happens, the methylation process becomes less efficient, which can lead to elevated levels of homocysteine in the blood. High homocysteine has been linked to a range of health issues, including cardiovascular disease, neurological problems, and poor metabolic function.
MTHFR, Homocysteine, and Insulin Resistance
One of the lesser-known consequences of MTHFR mutations is their potential link to insulin resistance. Elevated homocysteine levels—often a result of reduced MTHFR function—may damage the cells lining blood vessels, leading to inflammation and impaired insulin signaling. This means that individuals with MTHFR variants may be more prone to metabolic issues, especially if other risk factors are present.
Supporting Healthy Methylation
Even with an MTHFR mutation, it’s possible to support the body’s methylation pathways. Some key strategies include:
- Consuming natural folate (not folic acid) from leafy greens, liver, and eggs
- Supplementing with methylated forms of B vitamins (like methylfolate and methylcobalamin)
- Managing stress, which can deplete B vitamins and hinder methylation
- Avoiding synthetic folic acid, which may not be well metabolized by those with MTHFR variants
Understanding your genetics can help guide nutritional choices and lifestyle strategies that optimize metabolic health and reduce risk for chronic conditions.
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