In line with its mission, the Editorial Board of MedTvoiLokony makes every effort to provide reliable medical content supported by the latest scientific knowledge. The additional flag “Checked Content” indicates that the article has been reviewed by or written directly by a physician. This two-step verification: a medical journalist and a doctor allows us to provide the highest quality content in line with current medical knowledge.
Our commitment in this area has been appreciated, among others, by by the Association of Journalists for Health, which awarded the Editorial Board of MedTvoiLokony with the honorary title of the Great Educator.
The MTHFR gene ensures proper processing and absorption of folic acid – a vitamin that we provide, among others with food. Its presence prevents the development of neural tube defects in the fetus. However, the C677T mutation in the MTHFR gene interferes with the processing of folate in the body. Even every second Polish woman can be its carrier. A genetic test based on a smear from the inside of the cheek is used to detect the mutation. Knowing this becomes extremely important for women who are planning to become pregnant.
MTHFR gene mutation
Folic acid affects the stability of a child’s genetic material. It makes its DNA not damaged. Therefore, mothers-to-be are the most vulnerable to complications resulting from folic acid deficiency. Children of these women who lacked folic acid during pregnancy are more often born with anencephaly, spina bifida, i.e. neural tube defects. Folic acid taken during pregnancy and at least 3 months before conception reduces the risk of these defects by up to 50-70 percent.
Folic acid is necessary for – among other things – the conversion of homocysteine into methionine. If it is missing, or when its active form is missing, the efficiency of this process decreases and the level of homocysteine begins to rise. When it exceeds a certain critical value, dangerous things start to happen in the body. Without going further into scientific terminology, homocysteine is something like an acid that literally etches blood vessels or bones. Statistically, increasing blood concentration by 5 µmol / L increases the risk of death by about 50 percent.
Consequences of mutations in the MTHFR gene
There is another one function of active folic acid – it supports all kinds of transformations related to the so-called “methylation cycle”. It regulates most of the processes in the body. For example: the efficiency of methylation determines the rate of regeneration of myelin sheaths, the disappearance of which (in short) is the cause of multiple sclerosis. This means that mutations these can affect any medical conditions that are related to homocysteine as well as those that depend on the course of methylation. People with highly elevated levels should look for the cause elsewhere.
It must be emphasized that in the “natural” human diet folic acid there was much more than he eats today, so the “mutation” would have no chance of harming anyone. If someone has elevated homocysteine levels, they probably have had a long-term reduced efficiency of methylation-dependent processes. Therefore, supplementation is especially important, because today’s diet does not contain such good quality and such a large amount folic acid, what would be best for a man.