Question: What is (are) MTHFR gene mutation ?
Answer: MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine. Some rare MTHFR gene mutations severely impair the function of this enzyme and lead to homocystinuria, an autosomal recessive condition characterized by various health problems including abnormal clotting and neurological problems (developmental delay, seizures, intellectual disability and microcephaly). Common MTHFR gene mutations (such as C677T and A1298C) lead to a milder reduction in enzyme function. People with two copies of C677T or one copy of C677T and one copy of A1298C may have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. Many people who inherit these mutations never develop one of the associated conditions.
Source: GARD

Question: What are the symptoms of MTHFR gene mutation ?
Answer: What are the signs and symptoms of MTHFR gene mutations? People with MTHFR gene mutations may develop elevated levels of homocysteine in their blood (homocysteinemia) or urine (homocystinuria). Risks for health effects vary depending on the levels of homocysteine. A few cases of severe homocysteinemia have been due to rare MTHFR gene mutations (sometimes in combination with a second common MTHFR gene mutation). Symptoms in these patients varied greatly but often involved pronounced neurological symptoms and blood vessel disease. The age of the patients when they first experienced symptoms varied from infancy to adulthood. Common MTHFR gene mutations cause less severe, although still significantly raised levels of homocysteine. The most well studied MTHFR mutation, is C677T. An estimated 11% of Americans carry two copies of this mutation. People with two copies of C677T have higher homocysteine levels, than those without the mutation (people with one copy of C677T may have mildly raised homocysteine levels). Many studies have investigated the health effects of high homocysteine levels and/or having two C677T MTHFR gene mutations. Some studies suggest that an elevated level of homocysteine in the blood is associated with an increased risk for heart disease, including coronary heart disease and stroke. Specifically, studies have estimated that people with two C677T MTHFR mutations have a 16% higher chance of developing coronary heart disease, when compared to people without these mutations. Weaker associations have been suggested between high homocysteine levels and narrowing of the carotid arteries (the arteries on each side of your neck), blood clots in deep veins (often in the lower leg and thigh), a sudden blockage in a lung artery, and pregnancy complications (such as preeclampsia, placental abruption, fetal growth restriction, stillbirth, and neural tube defects). Studies involving MTHFR and homocysteine and the following conditions have been completed, but with conflicting and varied results:* Hypertension Hyperlipidemia Psoriasis Infertility Recurrent pregnancy loss Downs syndrome Spina bifida Parkinson disease Alzheimer disease Migraine Cerebral venous thrombosis Psychiatric disorders Schizophrenia Breast cancer Cervical cancer Ovarian cancer Esophageal cancer Oral cancer Liver cancer Pancreatic cancer Prostate cancer Bladder cancer Lung cancer Stomach cancer Colorectal cancer Acute lymphoblastic leukemia *This is not an exhaustive list of all studies involving MTHFR and health effects.
Source: GARD

Question: Is MTHFR gene mutation inherited ?
Answer: How is a MTHFR gene mutation inherited? Because each person has two copies of the MTHFR gene, people can inherit one copy of the MTHFR mutation or two copies (one from each parent). People who inherit two copies of a common MTHFR gene mutation (for example two C677T mutations or a C677T mutation and a A1298C mutation) may have an increased risk for certain conditions such as coronary artery disease, blood clots, and stroke when compared to those without the mutations and elevated homocystine levels. Coronary artery disease, blood clots, and stroke are all complex conditions and are caused by a combination of many genetic and environmental factors. Some rare MTHFR gene mutations can lead to homocystinuria, which is inherited in an autosomal recessive manner. Visit our "Homocystinuria due to MTHFR deficiency" webpage.
Source: GARD

Question: What are the treatments for MTHFR gene mutation ?
Answer: How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin). It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered. We recommend that you talk to your doctor to learn if supplementation would benefit you. Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
Source: GARD