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The mystery of the MTHFR gene: How does it affect our health and disease?
The MTHFR gene, as the encoder of the rate-limiting enzyme in the methyl cycle, is closely related to our health. Mutations in this gene can, in some cases, affect an individual's susceptibility to a variety of diseases, including cardiovascular disease, neural tube defects, Alzheimer's disease, and more. However, there is still much controversy in the scientific community as to whether these mutations actually cause the above diseases. So, what impact does the mysterious gene MTHFR gene have on our health?
Basic functions and structures of MTHFR
MTHFR (methyltetrahydrofolate reductase), in the rate-limiting step of the methyl cycle, converts 5,10-methyltetrahydrofolate into 5-methyltetrahydrofolate, which converts homocysteine A common substrate required for methionine. This process is critical for maintaining homosine levels in the body. The MTHFR gene is located at the p36.3 position of human chromosome 1. Variations in this gene exist at different frequencies in different races, mainly two single nucleotide polymorphisms (SNP), C677T and A1298C.
Among 447 people, it was found that the MTHFR activity of individuals with the 677TT genotype was significantly lower than that of individuals with 677CC and 677CT.
The association between MTHFR genetic variation and disease
The C677T SNP is the most common and widely studied MTHFR variant. Research shows that individuals with the 677TT genotype may be at risk for higher homocysteine levels, which are associated with cardiovascular disease and other health problems. The A1298C mutation has not been found to affect the activity of the MTHFR enzyme, although it is related to the development of the hypothalamus. This indicates that polymorphisms in the MTHFR gene may have a direct impact on individual health, but the specific mechanism still requires further study.
When dietary folate intake in 677TT individuals is too low, their plasma cysteine levels will further increase, increasing the risk of cardiovascular disease.
Clinical significance of MTHFR test
Although some studies have shown that MTHFR gene variants may be associated with a variety of diseases, the American College of Medical Genetics has issued official guidance recommending against such testing because the latest comprehensive analysis has rejected its direct association with coronary heart disease and other diseases. . This view has triggered debate among many experts, and some experts still believe that MTHFR testing may have certain clinical value in certain circumstances.
MTHFR and pregnancy outcomes
Some studies have begun to focus on the potential link between MTHFR gene variants and pregnancy outcomes, especially in patients with recurrent miscarriages and neural tube defects. Some studies have pointed out that the 677TT genotype may be associated with an increased risk of neural tube defects, while the impact of A1298C is relatively small. However, as research has progressed, the reliability of this link has been questioned.
Future research directions
Research on the MTHFR gene is still ongoing, especially its role in neurodegenerative diseases, pregnancy and other major health issues. As the cost of genetic sequencing continues to decrease, future personalized medicine may be better able to take these genetic variations into account. However, closely integrating diagnosis and treatment of MTHFR genes still requires a large amount of clinical verification.
With a better understanding of the MTHFR gene and its variations, can we find effective ways to improve the prevention and treatment of certain diseases?
