Retinal Gene Is Linked to Childhood Blindness

THURSDAY March 5, 2009 -- A gene that plays a major role in two forms of childhood blindness has been identified by an international team of researchers.

The discovery of the link between the retinal gene SPATA7 and Leber congenital amaurosis (LCA) and retinitis pigmentosa is important because it pinpoints a new retinal metabolic disease pathway that might be crucial for many patients, according to the researchers. The finding could help lead to gene-based treatments, they say.

Previous research identified 14 genes involved in LCA, but SPATA7 is the first gene with a mutation that disrupts the protein transport between two important compartments of the cell -- the endoplasmic reticulum and the Golgi apparatus. Because all proteins in every cell have to pass through this transport system, a mutation in SPATA7 might affect many aspects of vision.

The study was published March 5 in The American Journal of Human Genetics.

"Until now, we were not aware that this cellular mechanism played a role in LCA or any other eye disease," the research team leader, Dr. Robert Koenekoop, director of pediatric ophthalmology and the McGill Ocular Genetics Laboratory at the Montreal Children's Hospital of McGill University Health Centre, said in a hospital news release.

"This is a very important step that opens up a number of new research avenues, particularly in our understanding of the specific cellular processes involved in blindness," Koenekoop said. "This finding also increases the number of potential therapeutic targets and, therefore, the chances of finding a treatment."

Sharon Colle, president and chief executive of The Foundation Fighting Blindness, said in the news release that "this is an incredible discovery that gives great hope to LCA patients and their families, that gene based therapies can and will be developed to restore sight." The foundation funded the research.

More information

The Foundation Fighting Blindness has more about LCA.

Posted: March 2009


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