title: Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy.
abstract: Retinitis pigmentosa (RP) is a group of retinal degenerative diseases that are characterised primarily by the loss of rod photoreceptor cells. Mutations in rhodopsin are the most common cause of autosomal-dominant RP (ADRP). Here, we propose a new classification for rhodopsin mutations based on their biochemical and cellular properties. Several different potential gain-of-function mechanisms for rhodopsin ADRP are described and discussed. Possible dominant-negative mechanisms, which affect the processing, translocation or degradation of wild-type rhodopsin, are also considered. Understanding the molecular and cellular consequences of rod-opsin mutations and the underlying disease mechanisms in ADRP are essential to develop future therapies for this class of retinal dystrophies.
authors.affiliation: Division of Pathology, Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
authors.forename: Hugo F
authors.initials: HF
authors.lastname: Mendes
authors.forename: Jacqueline
authors.initials: J
authors.lastname: van der Spuy
authors.forename: J Paul
authors.initials: JP
authors.lastname: Chapple
authors.forename: Michael E
authors.initials: ME
authors.lastname: Cheetham
mesh_terms: D000595:Amino Acid Sequence; D016923:Cell Death / Q000502:physiology*; D006801:Humans; D008959:Models, Neurological; D008969:Molecular Sequence Data; D009154:Mutation; D011487:Protein Conformation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics*
chemical_list: D012243:Rhodopsin