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findings indicate that the loss of folate as a methyl donor is a modifier of allergic airway disease, and that epigenetic and expression changes correlate with this modification.
Ganglion cell loss and vasculopathy observed in Mthfr+/- and Cbs+/- 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, and mild vasculopathy by 24 weeks.
DNA methylation 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
expressed in placenta at highest level during early development
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 uncoupling and downregulation of SIRT1.
Variable presentation of MTHFR deficiency in different genetic backgrounds; plasma homocysteine is not a predictor of severity.
Newborn reflex development was slightly influenced by Mthfr +/- genotype and by the combination genotype and the neonatal vigabatrin (GVG) administration, in a sex-independent manner. Females presented attenuated anxiety due to Mthfr +/- genotype and GVG.
multiple transcription start sites and alternative splicing
reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine
Mthfr(+/-) genotype sensitizes mice to diet-induced hyperhomocysteinemia and hyperhomocysteinemia alters tissue methylation capacity and impairs endothelial function in cerebral microvessels.
These results suggest a possibility that the truncated pseudogene may buffer variations of the mouse Mthfr functional gene, and the mouse has evolved fewer variations of the gene than human
important role for choline and betaine depletion in the pathogenesis of homocystinuria due to MTHFR deficiency
MTHFR plays a role in cerebellar patterning, possibly through effects on proliferation or apoptosis.
The polymorphism of MTHFR C677T/A1298C may not be an important indicator for the accurate detection of side effects of chemotherapy after using methotrexate.
We found a significant inverse correlation between MTHFR methylation levels and perceived stress scores, which remained significant after being adjusted for age, sex, and depressive symptomatology. This is the first study that reports an association between perceived stress and MTHFR methylation levels.
No significant difference in FVL genotype between patients and controls was observed, whereas high frequencies of PRT G20210A, MTHFR C677T and MTHFR A1298C mutations in the Hb S patients
MTHFR C677T genotyping may be useful for predicting methotrexate toxicity
High frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients.
The frequency of MTHFR 677TT genotype may be correlated with the morbility of deep venous thrombosis.
Our 2.5 A resolution crystal structure of human MTHFR reveals a unique architecture, appending the well-conserved catalytic TIM-barrel to a eukaryote-only SAM-binding domain. The latter domain of novel fold provides the predominant interface for MTHFR homo-dimerization, positioning the N-terminal serine-rich phosphorylation region near the C-terminal SAM-binding domain.
Meta-analysis shows that air pollution level is an environmental factor interacting with increased MTHFR C677T polymorphisms, impacting the susceptibility to hypertensive disorders in pregnancy.
Our findings indicate that the MTHFR gene polymorphism might play a role in the etiology of patients with recurrent miscarriage (RM) or repeated implantation failure (RIF). No adverse effects of different MTHFR haplotypes on embryo development were detected. Further studies on the biological role are needed to better understand the susceptibility to pregnancy complications
The meta-analysis suggested that the T allele of the rs1801133 polymorphism of MTHFR is a risk factor for coronary artery disease.
MTHFR C677T polymorphisms were significantly associated with recurrent pregnancy loss (RPL) in Bosnian women...
The 1298A>C polymorphism in the MTHFR gene is not a risk factor for ischemic stroke in pediatric patients. (Meta-analysis)
MTHFR SNPs are associated with bone turnover level in Chinese pregnant women. Homocysteine, osteocalcin and lead contents in plasma are associated with the MTHFR gene A1298C polymorphism.
The results suggest that G1793A substitution might be a protective genetic factor against male infertility.
MTHFR 677 T may play a significant role in regard to the risk of preterm delivery, especially in the Asian population.
The MTHFR 677TT genotype is an independent risk factor for hyperhomocysteinemia in Tunisian rheumatoid arthritis patients.
Findings provide evidence for a relationship between two genes-three mutations-of the cardiovascular disease (CVD genes panel and recurrent pregnancy loss (RPL). These genotypes include MTHFR C677T homozygosity, MTHFR A1298C homozygosity, compound heterozygosity of the two MTHFR gene mutations.
Study indicated that MTHFR rs1801133, FGF5 rs16998073 and CSK rs1378942 were associated with increased the risk of obesity in the Chinese children.
Findings showed lower MTHFR mRNA expression in preeclampsia (PE) women. The MTHFR rs1537514C>G polymorphism was associated with lower PE risk and MTHFR mRNA expression. Lower expression of MTHFR mRNA was observed in women with hypermethylated promoter.
The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan, Mexico
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