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What You Need to Know About the MTHFR Mutation

by Steven M. Rachlin, M.D.

MTHFR is a gene mutation that can severely impact how well your body metabolizes folate and folic CRGLongIslandALternativeRachlinacid—both forms of vitamin B9, which is required for many critical bodily functions. MTHFR is short for methylenetetrahydrofolate reductase, which is an important bodily enzyme. It’s essential for methylation to occur. It’s the process that switches genes on and off, repairs DNA and many other important things. It also converts both folate and folic acid into its active usable form called 5-MTHF.

The only way to determine if you have an MTHFR mutation is to get a genetic blood test. Some symptoms of those that have MTHFR include folate deficiency, an autoimmune disease, history of anxiety or depression, gastrointestinal issues, prior miscarriage and high homocysteine levels. An MTHFR mutation is not inherently dangerous—roughly 30 to 50 percent of us carry a mutation in the MTHFR gene passed down from our parents. Most people with a mutation remain unaffected and do not experience symptoms; however, for some, enzyme efficiency can drop down between 30 to 70 percent, depending on the variant of mutation.

Those with MTHFR mutation may be predisposed to increased levels of homocysteine, a strong risk factor for cardiovascular disease. They’re also more likely to develop a folate deficiency if their diet is not rich in folate. Because genes are influenced by our diet and environment, many studies are also able to find a link between MTHFR and a particular disease process or disability. This can range from cancer risk to autoimmune diseases and more. Elevated homocysteine levels in the blood is an independent risk factor for heart disease, stroke and other forms of cardiovascular disease. It’s also linked to Alzheimer’s disease, hearing loss and cancer.

Fortunately there are some steps that can be taken if you have the MTHFR mutation, including limiting the intake of fortified wheat flour and replacing folic acid supplements with the active form of folic acid, which is 5-MTHF, or L-methylfolate. 5-MTHF is better absorbed and interacts with fewer medications than folic acid. There are some important factors to consider before taking 5-MTHF, namely your vitamin B12 levels.

The importance of folate cannot be overstated. This is why MTHFR symptoms warrant such concern in the first place—while more folic acid (synthetic vitamin B9) is not desirable, more folate (natural vitamin B9) certainly is. Some of the best sources of folate include beans and lentils, asparagus, raw spinach, romaine, avocadoes, oranges and mangoes.

There are several other important nutrients to consider for folate metabolism—most importantly vitamin B2 (riboflavin) and vitamin B6 (pyridoxine), which assist in the formation of 5-MTHF. The best sources of B2 are almonds, oily fish, hard-boiled eggs, mushrooms, spinach and natural yogurt. The best sources of vitamin B6 are sunflower seeds, oily fish, pistachios, turkey, chicken, pork, beef, bananas, avocados and spinach.

If you are deficient in either of these nutrients, part of the folate metabolism cycle will break down. Natural folate is a nutrient we all need to get more of—MTHFR defect or not. Vitamin B2 and B6 are also important, given their role in folate metabolism.

Source: Steven M. Rachlin, M.D., of Rachlin Medical Center, located at 927 Willis Ave., Albertson. For more information or to schedule an appointment, call 516-873-7773 or visit RachlinMedical.com.

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