Blood or urine test pinpoints genetic mutations linked to retinitis pigmentosa

A blood or urine sample may be analyzed to identify genetic mutations associated with retinitis pigmentosa.Retinitis pigmentosa patients were found to have mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, a key enzyme in the production of dolichols, a type of lipid in cells of the body, according to a news release from Bascom Palmer Eye Institute.“The biomarkers we discovered are a functional readout of dolichol metabolism. We can now assess whether dolichol biosynthesis is impaired by a simple biochemical test of a blood or urine sample,” Byron L. Lam, (Read more...)

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