| Theme |
Homocysteinemia in Association with Chronic Renal Failure |
| Title |
Mechanisms of hyperhomocysteinemia --Association between a new point mutation in methylenetetrahydrofolate reductase gene and atherosclerosis |
| Author |
Katsumi Arai |
Department of Gastroenterology and Metabolicdisease, Osaka Prefectural General Hospital |
| Author |
Tsutomu Kanda |
Department of Gastroenterology and Metabolicdisease, Osaka Prefectural General Hospital |
| Author |
Yoshimitsu Yamasaki |
The First Department of Medicine, Osaka University School of Medicine |
| [ Summary ] |
Hyperhomocysteinemia is commonly observed, as one of the established risk factors for atherosclerotic diseases. Recently a new point mutation (C677T) in 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been identified. In individuals homozygous for the mutation, MTHFR enzyme activity was reduced and fasting serum homocysteine concentrations were significantly increased. Several investigators have demonstrated that a homozygous C677T mutation is a risk factor for atherosclerotic diseases.
Other investigators have reported negativerelationships between them. Hyperhomocysteinemia also increases the risk for atherosclerotic diseases in renal failure. But there have been no studies exploring the relationships between homozygous C677T mutation and atherosclerotic vascular diseases. |