Journal Article10.1006/MGME.2000.3034
A Polymorphism (80G->A) in the Reduced Folate Carrier Gene and Its Associations with Folate Status and Homocysteinemia
Abalo Chango,Nathalie Emery-Fillon,Genevieve Potier de Courcy,Daniel Lambert,Michèle Pfister,David S. Rosenblatt,Jean-Pierre Nicolas +6 more
336
TL;DR: A moderate, but significant, increase in total homocysteine levels in doubly homozygous 80GG/677TT subjects is found and individuals who were 80AA/677CT had higher plasma folate levels than those who are 80GG or677CT.
read more
About: This article is published in Molecular Genetics and Metabolism. The article was published on 01 Aug 2000. The article focuses on the topics: Methylenetetrahydrofolate reductase.
read more
Chat with Paper
AI Agents for this Paper
Find similar papers on Google Scholar, PubMed and Arxiv
Write a critical review of this paper
Analyze citations of this paper to find unaddressed research gaps
Citations
Effects and safety of periconceptional oral folate supplementation for preventing birth defects
TL;DR: The results of the first comparison, involving 6708 births with information on NTDs and other infant outcomes, show a protective effect of daily folic acid supplementation (alone or in combination with other vitamins and minerals) in preventing N TDs compared with no interventions/placebo or vitamin and minerals without folic Acid.
751
Membrane transport of folates.
TL;DR: Many of the key in vitro findings on the properties of antifolate transporters are now beginning to be extended to patient specimens, thus setting the stage for understanding response to these drugs in the clinical setting at the molecular level.
424
Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.
TL;DR: This review focuses on the physiological roles of the major folate transporters, with a brief consideration of their impact on the pharmacological activities of antifolates.
How environmental and genetic factors combine to cause autism: A redox/methylation hypothesis.
Richard C. Deth,Christina Muratore,Jorge Benzecry,Verna-Ann Power-Charnitsky,Mostafa I. Waly +4 more
TL;DR: A "redox/methylation hypothesis of autism" is described, in which oxidative stress, initiated by environment factors in genetically vulnerable individuals, leads to impaired methylation and neurological deficits secondary to reductions in the capacity for synchronizing neural networks.
341
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview.
TL;DR: Hyperhomocysteinaemia has been regarded as a new modifiable risk factor for atherosclerosis and vascular disease and a link has been postulated between homocysteine, or its intermediates, and an alterated DNA methylation pattern.
330
References
•Book
The Metabolic and Molecular Bases of Inherited Disease
Charles R Scriver
- 01 Jan 1995
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
12.7K
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
P. Frosst,Henk J. Blom,Renate Milos,Philippe Goyette,Christal A. Sheppard,Rowena G. Matthews,G. J.H. Boers,M. den Heijer,Leo A. J. Kluijtmans,L.P.W.J. van den Heuvel,Rima Rozen +10 more
TL;DR: This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease.
Folate and carcinogenesis: evidence, mechanisms, and implications.
TL;DR: A growing body of epidemiologic and clinical evidence suggests that, regardless of the systemic folate status, folate deficiency in certain epithelial tissues may be a factor that predisposes to the development of neoplasms arising from these tissues.
607
Method of assay of red cell folate activity and the value of the assay as a test for folate deficiency.
TL;DR: There was a good correlation between red cell folate level and severity of folate deficiency assessed by polymorph nuclear lobe counts, and, in the non-anaemic patients bone marrow morphology.
342