Genetic Link to Blinding Eye Disease Found

Gene mutation linked to retinitis pigmentosa tends to affect those of Jewish descent

August 13, 2011 / Author:  / Reviewed by: Joseph V. Madia, MD

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(dailyRx News) Genetic findings can often highlight certain populations that may be at a heightened disease risk. A gene mutation that can cause a blinding eye disease may be more likely to affect those of Jewish descent.

With the discovery of the genetic cause of retinitis pigmentosa, an inherited eye disease in which there is retinal damage, scientists may better be able to prevent the disease with genetic testing, and treat it with gene therapies and cell replacement.

"Try taking vitamin A to slow progression of the disease."

Budd Tucker, lead study author and a University of Iowa assistant professor of ophthalmology and visual science, said that new technology has enhanced the ability to validate disease-causing mutations, which is critical to treating diseases such as retinitis pigmentosa.

The uncommon disease only affects about one in every 4,000 in the United States. The blinding eye disease is believed to be caused by mutations in more than 100 different genes. Only about half of those genes have been identified.

Researchers discovered a mutation in a gene called MAK (male germ cell associated kinase) that had not previously been linked to eye disease. Examining donated eye tissue showed that the protein was located in parts of the retina affected by the disease.

Investigators then took pluripotent stem cells, which can be transformed into other types of cells, from a patient's own skin cells and turned them into retinal tissue. Studying this tissue showed that the gene mutation caused the loss of protein the retina.

Next researchers screened the DNA of 1,798 patients with the disease, identifying 20 additional individuals with the same MAK mutation. The findings suggest the mutation accounts for 1.2 percent of cases in the general population.

All of the patients with the mutation were of Jewish descent, suggesting the mutation could be a significant cause of retinitis pigmentosa among that population.

The study, which was published in the Proceedings of the National Academy of Sciences Early Edition.