IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA

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.

Le ipocolesterolemie primitive

Hypobetalipoproteinemia (HBL) is characterized by cholesterol levels below the 5th percentile of the population distribution. Familial HBL (FHBL) is characterized by an inherited HBL trait within a family. In the last years gene defects underlying some cases of FHBL, but not all, have been identified. The molecular basis of some gene defect and the clinical onset of FHBL are presented in this paper.

LE IPERCOLESTEROLEMIE PRIMITIVE