MTHFR


Also found in: Acronyms.

MTHFR

A gene on chromosome 1p36.3 that encodes an enzyme which converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Molecular pathology
Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency and increase suceptibility to ischaemic strokes and folate-sensitive neural tube defects.
References in periodicals archive ?
Homocysteine, MTHFR 677C [flecha diestra] T polymorphism, and risk of ischemic stroke: results of a meta-analysis.
Genotyping assays for F2 c.*97G>A, F5 c.1601G>A, MTHFR c.665C>T, and MTHFR c.1286A>C were performed.
In this study, the polymorphisms of the MTHFR genes (MTHFR C677T and MTHFR A1298C), MTR (MTR A2756G), and MTRR (MTRR A66G) were determined in malaria patients in Burkina Faso.
The MTHFR primer sequences were as follows: F: 5-GGCTGACCTGAAGCACTTGAA-3' and R: 5'-AGAAAAGCTGCGTGATGATGAA-3'.
We hypothesize that genetic variants within the GSTM1/ GSTT1, CYP450, TP53, MTHFR, and MTRR genes might be each linked alone or linked in combination with the occurrence of UBC.
In order to investigate whether this hypothetical relationship between maternal MTRR and fetal VSD exists in human and whether this relationship also occurs between father and fetus, and furthermore to analyze whether the parental MTHFR 677C>T and MTHFR 1298A>C polymorphisms' effects on fetal CHD in human were also VSD specific, parents with specific fetal VSD-diagnosed pregnancy history (VSD parents) and other types of CHD pregnancy history (non-VSD parents) were both studied in this experiment.
Biochemical analyses performed on our patient revealed hyperhomocysteinemia, and genetic analysis demonstrated a homozygous (T/T) mutation of MTHFR (C677T).
Deficiency of folic acid or mutation in MTHFR enzyme can result in raised serum homocysteine level.
Also, MTHFR C 677 T could be frequently encountered (Albayrak et al 2011).
However, results from studies examining the relationship between MTHFR rs1801133 and rs1801131 polymorphisms and CHD risk have been inconsistent (Zhang et al., 2018; Asim et al., 2017; Yu et al., 2017; Guo et al., 2017).
After adjustment for baseline homocysteine concentrations, the homocysteine-lowering effect of folic acid was significantly greater in patients who were homozygous for the 677C[right arrow]T genotype of the methylenetetrahydrofolate reductase (MTHFR) gene than in those with the CC or CT genotype.