Title: Defective homocysteine metabolism as a risk factor for diabetic retinopathy
Abstract: Diabetic retinopathy is a major vascular complication leading frequently to blindness. Previous studies suggest that methylenetetrahydrofolate reductase (MTHFR) deficiency contributes to atherogenesis by raising plasma homocysteine. MTHFR is an enzyme in the transmethylation pathway by which homocysteine is converted to methionine. 1 Mudd SH Levy HL Skovby F Disorders of transsulfuration. in: Scriver CR Beaudet AL Sly W Valle D The metabolic and molecular basis of inherited disease. McGraw-Hill, New York1995: 1279-1327 Google Scholar A point mutation in the MTHFR gene, which alters alanine to valine, 2 Frosst P Blom HJ Milos R et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995; 10: 111-113 Crossref PubMed Scopus (5083) Google Scholar results in a thermolabile phenotype with impaired activity, leading to increases in the homocysteine level in blood and urine. Moderate homocysteinaemia has been shown to be a risk factor for premature arteriosclerosis of peripheral, 3 Engbersen AMT Franken DG Boers GHJ Stevens EMB Trijbels FJM Blom HJ Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet. 1995; 56: 142-150 PubMed Google Scholar cerebral, 4 Boers GHJ Smals AGH Trijbels FJM Heterozygosity for homocysteine in premature cerebral occlusive arterial disease. N Engl J Med. 1985; 313: 709-715 Crossref PubMed Scopus (669) Google Scholar and coronary 2 Frosst P Blom HJ Milos R et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995; 10: 111-113 Crossref PubMed Scopus (5083) Google Scholar arteries. Whether individuals with diabetes carrying this mutation are also at higher risk for vasculation complications, such as diabetic retinopathy, has not yet been studied. We investigated the association of the MTHFR gene polymorphism with diabetic retinopathy in Japanese individuals with non-insulin-dependent diabetes mellitus (NIDDM).
Publication Year: 1997
Publication Date: 1997-02-01
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 69
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