lead to signifi cant medical problems, a single copy of the C677T mutation has been estimated to cause a 30-40% reduction in a person’s methylation capacity. However, in individuals with 2 copies of a gene mutation or with one copy of each gene mutation, the methylation pathways in the body can be substantially impacted. Methylation defects have been linked to multiple defects in how our bodies operate. First reported in 1962, certain individuals with high levels of a chemical in the blood known as homocysteine were more likely to develop severe cases of cardiovascular disease as early as their teens and 20’s. Although all of us have some homocysteine in our blood, abnormally- elevated levels cause increased risk for atherosclerosis (hardening of the arteries) and for venous thrombosis (blood clot in the veins). Although other reasons such as kidney disease, hypothyroidism, psoriasis and certain medications can cause high homocysteine levels, it has been shown that MTHFR gene mutations impair a person’s ability to process folate effectively. This can contribute to elevated homocysteine levels. These elevated homocysteine levels have since
been associated with an increased risk for heart disease and dementia. Other impacts of methylation defects that have been established include an abnormal production of adrenaline (epinephrine) in the body and an abnormal production of the neurotransmitter dopamine, which is related to pleasure, activity and addiction. Methylation defects can also lead to abnormal hormone metabolism with great concern related to an insuffi cient clearance of the estrogen metabolites and a greater risk of breast and prostate cancer. Other women’s health concerns associated with elevated homocysteine levels include a greater frequency of preeclampsia, recurrent pregnancy loss and intrauterine growth restriction leading to small, low- birthweight babies. Finally, research has also indicated that approximately 20% of babies born with neural tube defects are born to mothers with abnormal homocysteine metabolism. Although no offi cial guidelines exist for the testing for homocysteine levels and MTHFR gene mutations, it is worth consideration in any person with a personal or family history of heart disease or in women
with a personal or family history of miscarriages or birth complications. MTHFR and homocysteine are easily tested through a routine blood test and practitioners will generally support patients with two copies of the MTHFR gene mutations with strong doses of Vitamins B6 and B12, as well as folic acid and other supplements which support the methylation pathways. Finally, higher dosages of folic acid above the 0.4mg folic acid recommendation may be considered in women considering pregnancy. These women are encouraged to discuss their homocysteine levels with their doctor.
Michael Kehoe, PA-C, PhD practices at the Center for Natural and Integrative Medicine and has a background in exercise and human performance. He
specializes in Men’s Health, Chronic Fatigue and Fibromyalgia and emphasizes addressing the root cause of dysfunction, not simply addressing symptoms. He can be reached at The Center for Natural & Integrative Medicine, 407-355-9246.
407-345-5055 EXT 232 Maria Roman ARNP • Robert Weldon C.N.C. Director Nutrition & Wellness
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