Regulation and deregulation of cholesterol homeostasis: The liver as a metabolic “power station”

Table 1 Summary of the different causes of hypercholesterolemia

Disease	Cause	References
LDL r-related familial hypercholesterolemia	Over 1000 different mutations in LDLr gene	[12,13]
PCSK9-related hypercholesterolemia	Mutations in PCSK9 gene	[13,14]
Other mutation-related hypercholesterolemia	Mutations in CYP7A1, SREBP-2, SCAP genes	[14,18]
Autosomal recessive hypercholesterolemia	Recessive null mutations in LDLRAP1 gene	[13,14]
Familial ligand-defective apolipoprotein B	Mutations in apoB gene	[15-17]
Age-related hypercholesterolemia	Increased activation of HMGR	[4,19,20]

LDLr: Low density lipoprotein receptors; PCSK9: Proprotein convertase subtilisin/kexin 9; HMGR: 3-hydroxy-3-methylglutaryl-CoA reductase.