[Lipoprotein lipase--physiological and pathophysiological roles of this gene variant in Croatian population].
Lipoprotein lipase is a key enzyme in hydrolysis of triglyceride and exchange of lipids between lipoproteins in circulation. It has also been found for lipoprotein lipase to play key roles in number of pathophysiological conditions. Over hundred different lipoprotein lipase gene variants have been described in the literature. Lipoprotein lipase gene has been observed as a key factor involved in the pathogenesis of hypertriglyceridemia, coronary heart disease and pancreatitis. In Croatian population the following gene variants have been described: -93T/G, D9N, V108V, N291S, S447X, Pvu II i Hind III. The most important finding was the first mutation W86R which caused familial hypertriglyceridemia. The investigation of mutations and polymorphisms may open the new directions for molecular diagnostics of hypertriglyceridemia and help us recognize the new mutations. Differential diagnosis of hypertriglyceridemia and medical practice involved in their prevention and treatment may be improved by knowing the frequency of lipoprotein lipase gene variants as well as their influence on lipid profile.
Pasalić
Daria
D
Zavod za kemiju i biokemiju, Medicinski fakultet Sveucilista u Zagrebu, Salata 3, 10 000 Zagreb. daria.pasalic@mef.hr
Stavljenić-Rukavina
Ana
A
D017523:Croatia; D005828:Genetics, Population; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics* / Q000502:physiology; D008074:Lipoproteins / Q000378:metabolism; D009154:Mutation; D011110:Polymorphism, Genetic
D008074:Lipoproteins; D008071:Lipoprotein Lipase