In recent health news, the abbreviation “MTHFR” may have appeared. At first sight, it may appear to be a curse term, but it really refers to a frequent genetic mutation.
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that breaks down methylenetetrahydrofolate. It’s garnering a lot of attention because of a genetic mutation that can cause high homocysteine levels in the blood and low folate and other vitamin levels.
MTHFR mutations have been linked to a variety of health problems, therefore testing has grown more common over time.
MTHFR Mutation Test:
This test checks for mutations (differences) in the MTHFR gene. Genes are the basic units of heredity that your mother and father pass on to you.
Everyone carries two MTHFR genes, one from their mother and the other from their father. One or both of the MTHFR genes can be mutated. MTHFR mutations come in a variety of forms. Two of these mutations, also known as variations, are looked for in an MTHFR test. C677T and A1298C are the two MTHFR variants.
The MTHFR gene aids in the breakdown of a chemical called homocysteine in your body. Homocysteine is an amino acid, which is a sort of molecule that your body needs to produce proteins. Folic acid and other B vitamins normally break down homocysteine and convert it to other nutrients your body requires. There should be very little homocysteine in the circulation at this point.
Your MTHFR gene may not function properly if you have an MTHFR mutation. This may result in an excess of homocysteine in the blood, which can contribute to a variety of health issues, including:
- Homocystinuria, a condition that affects the eyes, joints, and cognition. It generally begins in the early years of a child’s life.
- Heart disease, stroke, high blood pressure, and blood clots are all elevated risks.
Women with MTHFR Mutations:
MTHFR mutations increase the chances of having a kid with one of the following birth defects:
- A neural tube abnormality known as spina bifida. The bones of the spine do not completely shut around the spinal cord in this syndrome.
- Another form of neural tube abnormality is anencephaly. Parts of the brain and/or skull may be absent or distorted with this condition.
Recommendations during Pregnancy:
Despite the fact that an MTHFR mutation increases the risk of birth abnormalities, the test is typically not suggested for pregnant women. Taking folic acid supplements during pregnancy lowers the chance of neural tube birth abnormalities significantly. So, whether or not they have an MTHFR mutation, most pregnant women are advised to take folic acid.
Supplements and all the other therapies for MTHFR polymorphisms, particularly those aimed at autism spectrum disorder, have been dubbed “snake oil.” While MTHFR tests are becoming more popular, they are often useless since the link between MTHFR gene variants and various illnesses has yet to be shown as a definite cause-and-effect relationship.
- “Mouse PubMed Reference:” National Center for Biotechnology Information, U.S. National Library of Medicine.
- “Entrez Gene: MTHFR methylene tetrahydrofolate reductase (NAD(P)H)”.