Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:6.3.5.5 (CPS)
 1,262 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of the study was to evaluate serum lipid levels during carbamazepine therapy in epileptic children. Thirty epileptic children (18 male, 12 female; age range, 30 months to 14 years) with idiopathic or cryptogenic partial or generalized tonic-clonic seizures (13 CPS, 17 GTC) were evaluated for serum lipids at the onset and the third month of carbamazepine therapy. Carbamazepine was started at 10 mg/kg/day. Mean total cholesterol, low-density lipoprotein, very low density lipoprotein, and triglyceride levels significantly increased during treatment (P < 0.05), but mean high-density lipoprotein levels were not statistically significant throughout the study. Carbamazepine treatment alters the serum lipid profile of children in such a way that it could potentially facilitate the development of atherosclerosis.
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PMID:Serum lipid levels during carbamazepine therapy in epileptic children. 1571 Mar 13

Metabolites derived from dietary choline and L-carnitine, such as trimethylamine N-oxide and betaine, have recently been identified as novel risk factors for atherosclerosis in mice and humans. We sought to identify genetic factors associated with plasma betaine levels and determine their effect on risk of coronary artery disease (CAD). A two-stage genome-wide association study (GWAS) identified two significantly associated loci on chromosomes 2q34 and 5q14.1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the urea cycle. Rs715 is also significantly associated with decreased levels of urea cycle metabolites and increased plasma glycine levels. Notably, rs715 yield a strikingly significant and protective association with decreased risk of CAD in only women. These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis.
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PMID:Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease. 2682 51