LIPOPROTEIN LIPASE – PHYSIOLOGICAL AND PATHOPHYSIOLOGICAL ROLES OF THIS GENE VARIANT IN CROATIAN POPULATION
Autori:
Daria Pašalić, Ana Stavljenić-Rukavina
Sažetak
Lipoprotein lipaza je enzim koji ima važnu ulogu u hidrolizi triacilglicerola i izmjeni lipida između lipoproteina u cirkulaciji, a može biti neposredno ili posredno povezan s nekoliko patofizioloških stanja. Do danas je u literaturi opisano više od stotinu različitih genskih varijanti lipoprotein lipaze. Gen za lipoprotein lipazu uočen je kao jedan od čimbenika uključenih u patogenezu hipertrigliceridemije, koronarne bolesti srca te pankreatitisa. U hrvatskoj populaciji opisane su genske varijante -93T/G, D9N, V108V, N291S, S447X, Pvu II i Hind III. Vrlo važan doprinos nosi otkriće prve prave mutacije koja je bila uzrokom nasljedne obiteljske hipertrigliceridemije, W86R, što bi moglo usmjeriti u budućnosti molekularnu dijagnostiku hipertrigliceridemije, kao i otkriti potpuno nove mutacije. Literaturni podaci o učestalosti genskih varijanti u genu za lipoprotein lipazu, kao i njihov utjecaj na lipidni profil mogu unaprijediti diferencijalnu dijagnostiku hipertrigliceridemija, kao i medicinsku praksu u prevenciji i liječenju.
Summary
Summary. 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.
