Autosomal recessive hypercholesterolaemia: Discrimination of ARH protein and LDLR function in the homozygous FH phenotype

• Published in: Clinica chimica acta Vol. 378; no. 1; pp. 33 - 37
• Main Authors: Abera, Aron B., Marais, A. David, Raal, Frederick J., Leisegang, Felicity, Jones, Sheena, George, Peter, Henderson, Howard E.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.03.2007
• Subjects: Adaptor Proteins, Signal Transducing - deficiency; Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - physiology; Adult; ARH deficiency; Autosomal recessive hypercholesterolaemia; Blotting, Western; Female; Gene mutations; Haplotypes; Humans; Hypercholesterolemia - genetics; LDLR function; Male; Mutation; Phenotype; Polymorphism, Single Nucleotide; Receptors, LDL - genetics; Receptors, LDL - physiology; Western blotting; ARH deficiency; Autosomal recessive hypercholesterolaemia; LDLR function; Gene mutations; Western blotting

Phenocopies of homozygous familial hypercholesterolemia (hoFH) having autosomal recessive inheritance, were recently found to arise from defects in the LDL receptor (LDLR) adapter protein, called ARH, which facilitates the clearance of circulating LDL. Discrimination between the two causes of the ph...