Saint Louis University researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness. The research, which will be published Tuesday in the April 27 Proceedings of the National Academy of Sciences (PNAS), opens the door to the development of new treatments.
The research was based on genetic information provided by several blind members of a South African family. The laboratory of William Sly, M.D., chair of the department of biochemistry at Saint Louis University School of Medicine, collaborated on the research with scientists from UCT/Groote Schuur Hospital in South Africa. Further evidence in support of their research was provided by Dr. Kang Zhang at the University of Utah.
The research began when a "gene hunt" involving five large families led the South African scientists to discover a genetic mutation not previously known to be involved in retinitis pigmentosa. The discovery was unusual because this gene was expressed only in the kidney and in micro-capillaries such as the capillaries beneath the eye, and not in the retina itself; typically, genes involved in retinal diseases are expressed only in the retina.
Matt Shaw | EurekAlert!
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