RBCfolát

RBCfolát, also known as methylfolate reductase polymorphism or MTHFR polymorphism, is a genetic variation that affects the body's ability to process folate, a B vitamin. It is a mutation in the MTHFR gene, which codes for an enzyme involved in the conversion of folic acid into its active form, methylfolate.

Individuals with the RBCfolát mutation may have elevated levels of homocysteine in the blood, a possible indicator of cardiovascular disease, and may be at increased risk of certain birth defects, such as neural tube defects. The mutation may also be associated with an increased risk of other health conditions, including osteoporosis, depression, and cognitive impairment.

The RBCfolát mutation is relatively common, affecting an estimated 30-60% of people of European descent. It is classified as a recessive trait, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

While some research suggests that individuals with the RBCfolát mutation may benefit from higher doses of folic acid, others have raised concerns about the potential risks associated with such supplementation. More research is needed to fully understand the implications of the RBCfolát mutation and its relationship to various health conditions.

Genetic testing for the MTHFR mutation, including the RBCfolát variant, is available, and some healthcare providers recommend vitamin supplementation, such as folic acid or methylfolate, as a preventive measure for individuals with this mutation. However, it is essential to consult with a healthcare professional before making any decisions regarding genetic testing or supplementation.