Title
Molecular biology of retinitis pigmentosa: Therapeutic implications
Date Issued
01 December 2004
Access level
metadata only access
Resource Type
journal article
Author(s)
Universitat Politècnica de Catalunya
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. © 2004 Bentham Science Publishers Ltd.
Start page
339
End page
349
Volume
2
Issue
4
Language
English
OCDE Knowledge area
Biotecnología relacionada con la salud
Scopus EID
2-s2.0-9444283151
Source
Current Pharmacogenomics
ISSN of the container
15701603
Sources of information:
Directorio de Producción Científica
Scopus