Role of ABCA4 in the mechanism and treatment of retinal degenerative diseases

Abstract

Abstract: ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC)transporters that is expressed in rod and cone photoreceptors of the vertebrate retina.ABCA4, also known as the Rim protein and ABCR, is organized as two tandem halves, each containing one transmembrane domain, one glyosylated extracellular domain and nucleotide-binding domain. Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative diseases including Stargardt macular degeneration, cone-rod dystrophy and a subset of retinitis pigmentosa.Biochemical studies on the purified ABCA4 together with analysis of ABCA4 knockout mice and patients with Stragardt disease have implicated ABCA4 as a retinylidene-phosphatidylethanolamine transporter that facilitates the removal of potentially reactive retinal derivatives from photoreceptors following photoexcitation.Knowledge of the genetic and molecular basis for ABCA4 related retinal degenerative diseases is being used to develop rational therapeutic treatments for this set of disorders.

Key words: ABCA4, Stragardt's disease, conerod dystrophy, retinitis pigmentosa, retinal degenerative disease

CLC Number:

R968

JIANG Bing, ZHOU Hong-hao. Role of ABCA4 in the mechanism and treatment of retinal degenerative diseases[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2009, 14(11): 1201-1207.

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