title: Unfolding retinal dystrophies: a role for molecular chaperones?
abstract: Inherited retinal dystrophy is a major cause of blindness worldwide. Recent molecular studies have suggested that protein folding and molecular chaperones might play a major role in the pathogenesis of these degenerations. Incorrect protein folding could be a common consequence of causative mutations in retinal degeneration disease genes, particularly mutations in the visual pigment rhodopsin. Furthermore, several retinal degeneration disease genes have recently been identified as putative facilitators of correct protein folding, molecular chaperones, on the basis of sequence homology. We also consider whether manipulation of chaperone levels or chaperone function might offer potential novel therapies for retinal degeneration.
authors.affiliation: Dept of Pathology, Institute of Ophthalmology, University College London, 11-43 Bath Street, London, UK EC1V 9EL.
authors.forename: J P
authors.initials: JP
authors.lastname: Chapple
authors.forename: C
authors.initials: C
authors.lastname: Grayson
authors.forename: A J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: R S
authors.initials: RS
authors.lastname: Saliba
authors.forename: J
authors.initials: J
authors.lastname: van der Spuy
authors.forename: M E
authors.initials: ME
authors.lastname: Cheetham
mesh_terms: D000818:Animals; D056385:Group II Chaperonins; D006801:Humans; D008958:Models, Molecular; D018832:Molecular Chaperones / Q000235:genetics / Q000378:metabolism*; D010786:Photoreceptor Cells / Q000166:cytology / Q000378:metabolism; D011487:Protein Conformation; D017510:Protein Folding; D012160:Retina / Q000378:metabolism / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
chemical_list: C414726:MKKS protein, human; D018832:Molecular Chaperones; D012243:Rhodopsin; D056385:Group II Chaperonins