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Hyperhomocysteinemia. An emerging and important risk factor for thromboembolic and cardiovascular disease
S C Guba1, L M Fink, V Fonseca
1Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, USA.
Insights
High homocysteine levels contribute to thrombosis and vascular disease. Identifying genetic causes of hyperhomocysteinemia may help treat at-risk patients with vitamins.
Area of Science:
- Biochemistry
- Vascular Biology
- Genetics
Background:
- Homocysteine is a key factor in thrombosis and vascular injury.
- Altered homocysteine metabolism, due to enzyme mutations, leads to hyperhomocysteinemia (HH[e]).
- HH[e] is linked to endothelial cell and vessel wall damage, and coagulation changes.
Purpose of the Study:
- To investigate the role of homocysteine in vascular disease.
- To understand how enzyme mutations affect homocysteine metabolism.
- To identify patient groups at risk for vascular disease due to HH[e].
Main Methods:
- Characterization of enzyme mutations affecting homocysteine metabolism.
- Analysis of mechanisms linking homocysteine to vascular damage.
- Review of current treatment strategies for HH[e].
Main Results:
- Homocysteine contributes significantly to thrombosis and vascular disease.
- Mutations in homocysteine metabolism enzymes cause hyperhomocysteinemia.
- Identifying these mutations allows for risk stratification of patients.
Conclusions:
- Hyperhomocysteinemia is a risk factor for vascular disease.
- Genetic characterization of HH[e] aids in identifying at-risk populations.
- Vitamin treatment offers a potential therapeutic approach for certain vascular diseases.
Abstract:
Homocysteine is an important contributing factor to thrombosis, vascular injury, and vascular disease. Mechanisms for homocysteine-induced vascular disease include alterations in coagulation as well as endothelial cell and vessel wall injury. Hyperhomocysteinemia (HH[e]) can occur when homocysteine metabolism is altered by mutations in enzymes responsible for homocysteine metabolism. Characterization of these mutations identifies patient groups at risk for vascular disease. Treatment of HH(e) consists of vitamins and raises the possibility that some forms of vascular disease may be easily, safely, and inexpensively treated.