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At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly.
8 Μαρ 2012 · Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine.
What’s the big deal about MTHFR mutations? When the MTHFR gene is functioning properly, it’s highly efficient at helping our bodies convert vitamin B9 (folate) into a usable form called methylfolate. When the gene is mutated, this capacity to convert vitamin B9 into methylfolate is reduced by 40-70%.
Mutations in the MTHFR gene have been thoroughly researched and are some of the most significant health modifiers in the human body. Depending on which type of polymorphism (mutation) you have, your body may have between 20 – 70% loss of function of the MTHFR enzyme. The two most common MTHFR gene mutations are the C677T and A1298C mutations.
In this chapter, we describe the complex structure of the MTHFR gene, summarize the current state of knowledge on mutations/polymorphisms in MTHFR and discuss some initial findings in a newly generated mouse model for MTHFR deficiency.
Many people have one or two genetic variants in the MTHFR gene. However, having a common variant in the MTHFR gene does NOT change your medical care. What is the MTHFR gene? MTHFR is a gene that makes an enzyme called MethyleneTetraHydroFolate Reductase. This enzyme works with a B-vitamin called folate.
6 ημέρες πριν · Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [provided by RefSeq, Oct 2009]
