Investigation progress of proprotein convertase subtilisin/kexin type 9 influencing the metabolism of cholesterol / 基础医学与临床
Basic & Clinical Medicine
;
(12)2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-591826
ABSTRACT
Familial hypercholesterolemia(FH) is a common autosomal dominant dyslipidemia,which is caused by mutations of the low-density lipoprotein receptor(LDLR) gene producing defect or deficiency in LDLR.The characters of FH are elevated level of total and LDL cholesterol.FH is considered to be a complex polygenic disease.Recently,more findings indicate that proprotein convertase subtilisin/kexin type 9(PCSK9) gene play an important role in serum cholesterol metabolism.Some mutated PCSK9 proteins decrease LDLR,which cause FH in affected families.Some other mutated PCSK9 proteins decrease self-affinity,which cause hypocholesterolemia.We review the newest researches about the structure,function ofPCSK9 gene and the relation of its mutations with plasma cholesterol metabolism.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Basic & Clinical Medicine
Ano de publicação:
2006
Tipo de documento:
Artigo
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