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Ganglion cell loss and vasculopathy observed in Mthfr+/- and Cbs (show CBS Proteins)+/- mouse retinas may be milder than expected, not because of compensatory increases of enzymes in remethylation/transsulfuration pathways, but because downstream transsulfuration pathway products GSH, taurine, and H2S are maintained at robust levels.
In summary, high folate intake during pregnancy leads to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, embryonic growth delay and memory impairment in offspring. These findings highlight the unintended negative consequences of supplemental folic acid.
Study demonstrated that maternal MTHFR deficiency (i.e., in utero MTHFR deficiency) and early life exposure to vigabatrin separately and together alter the levels of proteins in the glutamatergic synapse
Mildly hyperhomocysteinemic Mthfr+/- mice demonstrate reduced ganglion cell function, thinner NFL (show NEFL Proteins), and mild vasculopathy by 24 weeks.
DNA methylation (show HELLS Proteins) patterns in undifferentiated spermatogonia are relatively stable in culture over time under conditions of altered methionine and MTHFR levels.
Data from Mthfr knockout mice (in homozygous/heterozygous matings) suggest that maternal genotype contributes to sensitivity to arsenic as embryotoxin (i.e., genetic predisposition to fetal resorption/congenital malformation in arsenic poisoning).
our results support an interaction between mild neonatal stress, the MTHFR genotype and sex
investigation of Mthfr regulation in an in vivo mouse model revealed temporal- and tissue-specific regulation that supports important roles for MTHFR in the developing embryo, and in postnatal brain and male reproductive tissues
A possible mechanism for the epigenetic involvement of Mthfr deficiency is proposed in the gender-dependent regulation of proteins associated with plasticity of the excitatory synapse.
These results showed that methylenetetrahydrofolate reductase deficiency impairs endothelial progenitor cell formation and increases endothelial progenitor cell senescence by endothelial nitric oxide synthase (show NOS3 Proteins) uncoupling and downregulation of SIRT1 (show SIRT1 Proteins).
The prevalence of FVL (show F5 Proteins) polymorphism (16.3 %) was higher in retinopathy of prematurity (ROP (show STXBP1 Proteins)) patients than control subjects in this Turkish cohort. We suggest a possible association of FVL (show F5 Proteins) mutation with ROP (show STXBP1 Proteins) at the end of the study.
The MTHFR C677T polymorphism was associated with the risk of retinoblastoma in this Iranian population and the T allele had a protective effect on the susceptibility to retinoblastoma.
the MTHFR C677T variant may contribute in alteration of epigenetic regulation such as DNA methylation (show HELLS Proteins) mediated by DNA methyltransferases in patients with subclinical hypothyroidism and also, carriers of the T allele might have an increasing risk of developing subclinical hypothyroidism.
MTHFR methylation polymorphism influences practice effects in children during attention tasks.
Common polymorphisms in MTHFR, methionine synthase (show MTR Proteins) and cystathione beta lyase genes have no role in premature acute myocardial infarction in Pakistani population.
MTHFR C677T polymorphism with TT genotype could be a factor that increases the risk of HBV related Hepatocellular Carcinoma in a Chinese population
The MTHFR 677TT/1298AA, 677CC/1298CC genotypes (OR=1.6, P=0.03) were associated with Heart Failure regardless of its etiology.
the polymorphism-mutation patterns of MTHFR and their associations with risk for Colorectal Cancer (Meta-Analysis)
The common mutations found to be associated with schizophrenia and MTHFR are A222V, E429A, and R594Q. This study found that two mutations (A222V and E429A) showed lesser binding activity to flavin adenine dinucleotide and structural deviations when compared to the native molecule and mutant R594Q.
Mutations in the genes involved in the folate pathway had an important role in the etiology of birth defects. MTHFR C677T polymorphism is associated with Secundum Atrial Septal Defects.
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. 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.
, 5,10-methylenetetrahydrofolate reductase (NADPH)
, methylenetetrahydrofolate reductase (NAD(P)H)
, methylenetetrahydrofolate reductase-like
, methylenetetrahydrofolate reductase