Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The gene for methylenetetrahydrofolate reductase (MTHFR) has two different alleles (C and T), where the T is associated with decreased enzyme activity, hyperhomocysteinaemia, and increased risk for thromboembolism in coronary heart disease (CHD). The study was conducted using a sample of 378 Hungarian newborn infants: 96 control subjects (age: 59.9+/-8.6 years) with chest pain and 315 CHD patients (61.4+/-7.5 years). All adult subjects had undergone coronary angiography. It can be concluded that the carriers of T allele with CHD died earlier due to myocardial infarction and the C allele with lower homocysteine level may provide protection against fatal coronary artery occlusion.
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PMID:The methylenetetrahydrofolate reductase gene polymorphism (C677T) is associated with increased cardiovascular mortality in Hungary. 1545 11

A 42-year-old man presented at our attention with chest pain. His cardiac risk factors were smoking habit and family history of coronary artery disease. At the ECG, a mild ST-segment elevation in the inferior leads was shown. A normal left ventricular function was demonstrated at the echocardiography. An emergency coronary angiography was performed, and an extensive thrombosis of the right coronary artery and midleft anterior descending coronary artery was visualized. A primary angioplasty with thrombus aspiration and direct stenting of both sites followed. Biochemical analysis revealed a high plasma homocysteine level with a homozygotic anomaly of the 5,10-methylenetetrahydrofolate reductase. Currently, a nine-month followup negative for cardiac events is recorded.
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PMID:Multiple coronary artery thrombosis in 5,10-methylenetetrahydrofolate reductase gene mutation. 2191 25