Title: Molecular Biology of Retinitis Pigmentosa: Therapeutic Implications
Volume: 2
Issue: 4
Author(s): E. Ramon, L. J. del Valle and P. Garriga
Affiliation:
Keywords:
retinitis pigmentosa, vision, photoreceptor, autosomal dominant rp, autosomal recessive rp, mutations
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 sa me patient at different stages of the disease.
