Researchers from Baylor College of Medicine, as well as other institutions in the U.K., California and Maryland, have identified mutations in the gene REEP6 that can help explain some cases of retinitis pigmentosa that lacked a genetic diagnosis.
Scientists reportedly analyzed genes from about 600 patients with inherited retinal disease. Through their research, they reportedly found seven patients with clinically-diagnosed retinitis pigmentosa inherited in an autosomal-recessive manner, and with mutations in the REEP6 gene.
To further support their theory, the researchers carried out a series of experiments where they overexpressed one of the REEP6 mutations in human cells lines, reportedly finding some variants caused formation of intracellular inclusion bodies as those seen in patient retinas, suggesting a level of protein instability.
Researchers believe their discovery of a new gene associated with retinitis pigmentosa will allow for better diagnosis and provide a model for testing gene therapies.
The study was recently published in the American Journal of Human Genetics.
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Source: Baylor College of Medicine