Authors: E. Ramon; L. J. del Valle; P. Garriga

Source: Current Pharmacogenomics, Volume 2, Number 4, December 2004 , pp. 339-349(11)

Publisher: Bentham Science Publishers

Abstract:

Retinitis pigmentosa is a group of retinodegenerative diseases caused by mutations or deletions in over one hundred different genes. These mutations ultimately lead to blindness of those affected by the disease. A number of therapeutic approaches are currently under study and these are primarily directed to block or, if possible, to revert the effects of the mutations that cause photoreceptor cell apoptosis. A therapy that could only slow down the progression of the disease would be regarded as a major success especially if we take into account that there is no effective therapy at present.

Recent advances in molecular biology and genetics have opened the pace for promising molecular and cellular approaches aimed at fighting against the progression of the retinal degenerative process. These include using encapsulated cells containing neurotrophic factors that can be released into the eye in a controlled manner, ribozyme techniques directed towards specific degradation of mutated RNAs, and stem cell differentiation into photoreceptor cells for transplantation to the affected retina, among others. Different research lines in the gene therapy field are also being developed. Those targeting the apoptotic pathway are among the most studied and are included in the therapeutic strategies that can have a broader impact because they may be independent on the specific gene mutated. In any case a future is foreseen when these approaches, based on molecular genetic knowledge, can lead to individualized treatment for different patients carrying different mutations, or different treatments for the same patient at different stages of the disease.

Keywords: retinitis pigmentosa; vision; photoreceptor; autosomal dominant rp; autosomal recessive rp; mutations

Document Type: Review article

DOI: http://dx.doi.org/10.2174/1570160043377376

Affiliations: 1: Centre de Biotecnologia Molecular, Departament d'Enginyeria Quimica, Universitat Politecnica de Catalunya, Colom 1, 08222 Terrassa, Catalonia, Spain.

Publication date: 2004-12-01

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• Current Pharmacogenomics provides comprehensive overviews of all current research on pharmacogenomics and pharmacogenetics. All areas of the field from pre-clinical to clinical research are covered, including related areas such as genomics, proteomics, target discovery, bioinformatics and novel diagnostics. This international journal is peer-reviewed and publishes both mini- and full review articles.
  
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