MTHFR


Also found in: Medical.
AcronymDefinition
MTHFRMethylenetetrahydrofolate Reductase (gene mutation)
References in periodicals archive ?
Case-control study of genotypes in multiple chemical sensitivity: CYP2D6, NAT1, NAT2, PON1, PON2 and MTHFR.
sup][10] The factors that cause an increase of homocysteine levels are primarily nutrition and polymorphisms in genes encoding enzymes involved in homocysteine metabolism, such as (1) dietary deficiency of folic acid, Vitamin B6, and Vitamin B12;[sup][11] (2) genetic abnormalities, such as MTHFR polymorphism; (3) chronic conditions and diseases (obesity, diabetes mellitus, chronic renal disease, high blood pressure, thyroid dysfunction, cancer, and psoriasis); and (4) certain drugs (fenofibrate and methotrexate).
The patient was determined to have MTHFR A1298C homozygote mutation as an additional risk factor for recurrent thrombosis in NS.
One particular crossover study examined cardiovascular patients with the gene variant for the weakened MTHFR enzyme.
Biochemical analyses performed on our patient revealed hyperhomocysteinemia, and genetic analysis demonstrated a homozygous (T/T) mutation of MTHFR (C677T).
Automatic System for Polymerase Chain Reaction in real Time (PCR) and Kit Reagents for Detection of at least 6 Types Thrombophilia Mutations (SNPS): Factor V (R506Q, H1299R, Y1702C), Factor II (G20210A) and MTHFR (C677T, A1298C).
It requires folic acid and MTHFR (Methyl tetrahydrofolate reductase) enzyme for its conversion.
Also, MTHFR C 677 T could be frequently encountered (Albayrak et al 2011).
Frequencies of ABO C>T (rs505922), F5 C>G (rs6427196), MTHFR C>T (rs1801133), and FGG C>T (rs6536024) gene polymorphisms have not been previously evaluated in morbidly obese patients.
The MTHFR C677T polymorphism results in an amino acid replacement (alanine to valine), which causes the decrease in the activity of the encoded enzyme at 37[degrees]C or more (17).
La identificacion de la transicion C>T en el nucleotido 677 del gen de la MTHFR se realizo utilizando el metodo descrito por Frosst y col (39).
The MTHFR C677T polymorphism leads to the amino acid alanine being replaced by valine.