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New gene discovered in pathology of retinitis pigmentosa (RP)

Research published in the American Journal of Human Genetics (88: 201-206 & 207-215, Feb 2011) has demonstrated that a mutation in the dehydrodolichyl diphosphate synthase gene (DHDDS) may lead to retinitis pigmentosa (RP), an inherited retinal disorder primarily affecting photoreceptor neurons. The DHDDS gene product is a critical enzyme involved in the post-translational modification of proteins, in particular N-glycosylation, a fundamental biological process that maintains correct protein folding, structure and function.