Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.2.1.22 (cystathionine beta-synthase)
 965 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Moderate hyperhomocysteinaemia (MHH) is a risk factor for arteriosclerosis and thrombosis. About 10%-20% of the normal population have homocysteine levels contributing to an increased risk for arterial and venous disease. Main regulating enzymes of homocysteine metabolism are cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR). Heterozygosity for CBS deficiency is most likely not an important cause for MHH in vascular disease. A recently discovered cause of MHH is reduced MTHFR activity due to a homozygous C677T mutation in the coding region of MTHFR. This mutation has been related to an increased risk for cardiovascular disease, although a number of studies are not confirmative. The elevated homocysteine levels due to this mutation can be normalized by administration of vitamins involved in homocysteine metabolism, in particular folate.
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PMID:Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia. 958 41

In order to determine if cystathionine beta-synthase (CBS) could separate groups of patients with various vascular disease, CBS activity was studied in cultured human skin fibroblasts from 30 subjects being either controls, atherosclerotic patients or patients having suffered a deep venous thrombosis. We found a tendency to a negative correlation between age and CBS activity in the control group only (r = -0.58, P = 0.08), with a tendency to lower CBS activities in the young patients with atherosclerotic (4.9) or venous disease (5.3) compared to the young control group (10.2). This could implicate higher levels of p-homocysteine with increased age as well as in young patients with atherosclerotic or thrombotic disease causing vascular damage. The results are important for the further discussion of the role of homocysteine as a risk factor for developing atherosclerotic and thrombogenic vascular disease and for finding a suitable screening method as prevention is by vitamin supplement only.
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PMID:Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease. 971 28