Scientists have made a breakthrough in tackling a common form of retinitis pigmentosa (RP), which can eventually lead to blindness.
The breakthrough tackles the rhodopsin gene alteration that causes this inherited form of RP. Rhodopsin-linked RP is variable and at least 150 different alterations in the gene have been identified in RP families worldwide. This makes developing a gene-based therapy very complex, if not impossible, if the treatment targets the specific alteration.
Researchers in the Smurfit Institute of Genetics at the Trinity College of Dublin have been working for 20 years to identify the genes and find a potential treatment for RP. The paper has been published in the Molecular Therapy. The research is funded by Science Foundation Ireland, Fighting Blindness Ireland and the National Neurovision Research Institute, USA.
The rhodopsin-linked form of RP is caused by a mutant form of the rhodopsin gene. The therapy works by switching off both copies of the gene, the normal and the altered copies. Simultaneously, a replacement rhodopsin gene is introduced which has been subtly altered so it cannot be suppressed. It encodes normal protein, which allows the photoreceptors to work normally. The research restored visual function in mice with a dominant rhodopsin-linked form of RP exactly replicating the form of the disease, which affects humans.
The scientists hope that this basic research will move into more preclinical work, including a larger mammal, and eventually move on to human clinical trials.
The scientists believe that the research’s implications stretched far beyond RP, and may be applicable to a lot of dominant diseases. The key to finding a cure is to suppress the mutant gene causing the problems. Since this is the dominant gene, it is harder to treat, and hence the success of this research is important to treat those dominant diseases where the mutant protein drives the disease process.
Physician scientists and researchers can access the article here.
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