title: Lipoprotein lipase deficiency--rare or common?
abstract: Cardiovascular disease is the number one killer in the world. Prevention is the most promising treatment. However, predicting an individual's risk for cardiovascular disease is quite complicated, involving the complex interaction of a plethora of environmental and genetic factors. Many of the environmental factors can be suppressed by adopting a healthier lifestyle; dietary modifications, increasing exercise, not smoking, etc. Understanding the role of many genetic factors remains somewhat elusive. Genes involved in lipid metabolism are a focus of this ongoing genetic research. There is substantial evidence to suggest that one such gene, lipoprotein lipase (LPL), has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the blood; both independent risk factors for cardiovascular disease. Although a direct association has not be found, mutations resulting in LPL deficiencies have been linked to unfavorable lipid profiles. Although homozygous or compound heterozygous mutations in LPL resulting in complete loss of catalytically activity are rare, heterozygous mutations are quite common worldwide. It is when these moderate mutations are compounded by other risk factors, that a significant increase in risk of cardiovascular disease is observed. Therefore, it may be that these common deficiencies in LPL are an underlying cause for many incidents of cardiovascular disease.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Valerie
authors.initials: V
authors.lastname: Evans
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
mesh_terms: D002318:Cardiovascular Diseases / Q000235:genetics / Q000378:metabolism; D002914:Chylomicrons / Q000097:blood / Q000235:genetics; D004035:Diet Therapy; D015316:Genetic Therapy; D006801:Humans; D008071:Lipoprotein Lipase / Q000172:deficiency* / Q000235:genetics*; D008074:Lipoproteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D012307:Risk Factors
chemical_list: D002914:Chylomicrons; D008074:Lipoproteins; D008071:Lipoprotein Lipase