The MTHFR gene encodes the rate-limiting enzyme in the methyl cycle, methylene tetrahydrofolate reductase (MTHFR). Methylenetetrahydrofolatereductase is a catalytic enzyme that converts 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is a cosubstrate for homocysteine remethylation to methionine.
Conditions Associated with the MTHFR Gene Mutation:
MTHFR gene mutation symptoms differ from person to person and variation to variant. MTHFR is linked to the following conditions:
- Increased vulnerability to cardiovascular and thromboembolic illnesses (blood clots, stroke, embolism, and heart attacks).
- Bipolar disorder
- Colon cancer
- Leukemia (blood cancer)
- Severe pain and tiredness
- Nerve pain
- Pregnancy issues and increased miscarriages
People inherit one copy of the MTHFR gene from each of their parents, resulting in two MTHFR genes for everyone. One or both of these genes might be having mutations.
Having an MTHFR gene mutation in a parent or close relative might enhance a person’s chances of inheriting the same variation.
A homozygous MTHFR mutation is more likely in people who have two parents who carry the mutation.
MTHFR mutations surely not affect every person in the same way. Homocysteine levels in the blood or urine may be greater than usual in people who have one or more MTHFR mutations.
Although previous research has found links between MTHFR variations and a variety of health problems, additional study is needed to identify the specific health impacts of these gene changes.
People might consult a doctor about the advantages and disadvantages of genetic testing. Most health organizations, on the other hand, do not suggest genetic testing unless a person is experiencing serious health problems.
How to treat the MTHFR gene mutation?
When a patient’s homocysteine levels are extremely high, treatment is usually necessary. The following procedures are used to treat MTHFR gene mutations:
- Doctors most usually recommend vitamin B supplements (such as folic acid) to treat MTHFR mutations (good diet, no smoking, and keeping the body physically fit).
- Supplementation to address deficiencies, as well as drugs or therapies to address the individual health issue, may be recommended by the doctor.
- Antidepressants, for example, may be recommended as a treatment for any condition induced by the MTFR mutation.
Is there more Information about MTHFR mutation test?
Instead of doing an MTHFR gene test, some health care professionals merely test for homocysteine levels. That’s because whether high homocysteine levels are caused by a mutation or not, therapy is frequently the same.
Is MTHFR gene mutation a serious condition?
It’s difficult to understand both the MTHFR mutation and genetic disorders in general. The MTHFR mutation has different effects on different people. People who carry the mutation, on the other hand, may have higher-than-normal levels of homocysteine in their blood or urine, which can produce symptoms.
Genetic testing is frequently avoided unless these symptoms are present.
Monitoring enzyme activity is frequently recommended by healthcare practitioners in conjunction with other protective measures. The MTHFR gene mutation has a number of treatment possibilities. Patients with or without symptoms are counselled to eat healthily and have a healthy lifestyle that includes exercise, adequate sleep, and other good behaviors.
- “Dubious MTHFR genetic mutation testing”. Science-Based Medicine. 2015-06-11. Retrieved 2018-07-13.
- Hermes BM (2016-11-14). “How Your Genetic Sequence Can Be Exploited By The Supplement Industry”. Forbes. Retrieved 2018-07-13.