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Abstract The progression of atherosclerosis is influenced by genetic and environmental risk factors. A number of established risk factors, such as dyslipidemia, hypertension, diabetes mellitus and smoking are significantly related to cardiovascular risk. Genetic factors may account for more than 50% of the risk for cardiovascular disease. There are only a few genetic polymorphisms clearly identified, which contribute to premature CAD, the LPL gene is a particularly promising candidate gene because LPL represents an essential component of lipoprotein metabolism. The enzyme had been shown to play a central role in the overall lipid metabolism and transport. Also, LPL has the ability to bind simultaneously to both lipoproteins and cell surface receptors/proteoglycans, and this allows it to carry out a noncatalytic bridging function, which leads to the accumulation and cellular uptake of lipoproteins. LpL gene is located on chromosome 8p22, spans about 30 kb and is divided into 10 exons. The cDNA codes for a 475 amino acid protein including a 27 amino acid signal peptide. The catalytic center is formed by three amino acids: Ser132 Asp156, and His241. |