RGD Reference Report - Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. - Rat Genome Database

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Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy.

Authors: Mendes, HF  Van der Spuy, J  Chapple, JP  Cheetham, ME 
Citation: Mendes HF, etal., Trends Mol Med. 2005 Apr;11(4):177-85.
RGD ID: 8547539
Pubmed: PMID:15823756   (View Abstract at PubMed)
DOI: DOI:10.1016/j.molmed.2005.02.007   (Journal Full-text)

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.


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