The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa

Monogenic defects in the low density lipoprotein (LDL) uptake pathway occur commonly in South Africans, particularly in the Afrikaner community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure and thus function of the LDL receptor (LDLr). Defects in LDLr binding domain of apolipopreteinB-100 (apoB-100) are rarely encountered and are know as Familial defective apoB-100 (FDB). Several critical proteins are active in the LDL uptake pathway and their deficiencies are now being shown to underlie the rare autosomal recessive forms of hypercholesterolemia (ARH). One of these proteins is the LDLr adaptor protein know as ARH, which is presumed to facilitate interaction of the cytoplasmic tail of the LDLr with the internal protein matrix required for the receptor internalisation.

Grantor dc:publisher.institution

Department of Medicine

Year dc:date.issued

2005

Author dc:creator

• Abera, Aron

Advisors dc:contributor.advisor

• Henderson, Howard
• Marais, A David

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/3502

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/3502