A5042816112- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Esophageal and GI Pathology
- Epigenetics and DNA Methylation
- Pregnancy and preeclampsia studies
- Birth, Development, and Health
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Iron Metabolism and Disorders
- Amino Acid Enzymes and Metabolism
- Digestive system and related health
- Gestational Diabetes Research and Management
- Diet and metabolism studies
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Prenatal Substance Exposure Effects
- Blood Coagulation and Thrombosis Mechanisms
- Porphyrin Metabolism and Disorders
- Fluoride Effects and Removal
- Retinoids in leukemia and cellular processes
- Cleft Lip and Palate Research
- Peroxisome Proliferator-Activated Receptors
- Congenital Anomalies and Fetal Surgery
- Kidney Stones and Urolithiasis Treatments
- Nutrition and Health in Aging
McGill University Health Centre
2014-2024
McGill University
2009-2024
Tel Aviv University
2016
Montreal Children's Hospital
2005-2015
Cornell University
2010-2015
University College London
2015
Temple University
2013
Université de Montréal
2000-2009
Weatherford College
2009
Montreal Clinical Research Institute
1997-2006
Folic acid administration to women in the periconceptional period reduces occurrence of neural tube defects (NTDs) their offspring. A polymorphism gene encoding methylenetetrahydrofolate reductase (MTHFR), 677C-->T, is first genetic risk factor for NTDs man identified at molecular level. The another folate-dependent enzyme, methionine synthase (MTR), has recently been cloned and a common variant, 2756A-->G, identified. We assessed genotypes folate status 56 patients with spina bifida, 62...
Abstract Mild hyperhomocysteinemia, a risk factor for occlusive arterial disease, can be caused by disruptions of homocysteine metabolism. Methylenetetrahydrofolate reductase (MTHFR) catalyzes the synthesis 5-methyltetrahydrofolate, methyl donor remethylation to methionine. A common mutation in MTHFR , an alanine-to-valine substitution, may contribute mild hyperhomocysteinemia coronary artery disease (CAD). To test this hypothesis, we studied 152 patients with CAD analysis, enzymatic assays,...
Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability has recently been shown to caused common mutation (677C→T) in MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses compared their genotypes those 109 blood specimens individuals general population. 677C→T homozygosity was associated 7.2 fold risk for NTDs (95%...
Increased consumption of folic acid is prevalent, leading to concerns about negative consequences. The effects on the liver, primary organ for folate metabolism, are largely unknown. Methylenetetrahydrofolate reductase (MTHFR) provides methyl donors S-adenosylmethionine (SAM) synthesis and methylation reactions.
Cancer cells maintain high rates of glycolysis. Pyruvate dehydrogenase kinases (PDK) contribute to this phenomenon, which favours apoptosis resistance and cellular transformation. We previously reported upregulation PDK4 in normal mucosa colorectal cancer (CRC) patients compared with controls preneoplastic intestine our mouse model. Decreased methylation four consecutive CpGs was observed patients. Although other members the PDK family have been investigated for transformation potential, has...
Maternal periconceptional use of vitamin supplements containing folic acid substantially reduces the risk neural tube defects (NTDs) in offspring. The mechanism underlying this reduction is unknown. Several recent studies have reported an association between homozygosity for a variant form (the C677T genotype) 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and NTDs individuals. It has been hypothesized that maternal supplementation prevents by partially correcting reduced MTHFR...
Metabolism of folate is essential for proper cellular function. Within the pathway, methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a methyl donor remethylation homocysteine methionine, precursor S-adenosylmethionine. S-adenosylmethionine numerous reactions. In adult male mice, MTHFR levels are highest in testis; this finding, conjunction with recent clinical evidence, suggest an important role spermatogenesis. Indeed, we show...
Abstract BACKGROUND Folic acid fortification and supplementation has increased folate intake blood concentrations successfully reduced the incidence of neural tube defects. However, developmental consequences high are unknown. This study investigated impact intake, alone or with methylenetetrahydrofolate reductase (MTHFR) deficiency, on embryonic placental development in mice. METHODS Mthfr +/+ +/− pregnant mice a control diet (CD; recommended folic for rodents) acid‐supplemented (FASD;...