IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA
- Authors: CEFALU' AB; AMATO S; FERTITTA E; FAYER F; VALENTI V; GUELI MC; DI BLASI U; PAGANO M; NARDI I; CUSUMANO G; GULOTTA P; RAFFA A; DOVERI T; AVERNA MR
- Publication year: 2007
- Type: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/15179
Abstract
The distribution of cholesterol plasma is regulated by complex interactions between genes and environmental factors. Mutations of PCSK9 gene seem to modulate the levels of LDL-C. Mutations of PCSK9 gene with gain of function are associated to hypercholesterolemia and mutations with loss of function determine hypocholesterolemia.