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Blood or urine test pinpoints genetic mutations linked to retinitis pigmentosa
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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, MD, a professor of ophthalmology at Bascom Palmer and one of the study authors, said in an email interview with Ocular Surgery News. “This test can be used not only as a first-line diagnostic tool in the clinic but also as a functional assessment for potential treatments for retinitis pigmentosa related to impaired dolichol metabolism. We believe our finding underscores the importance of identifying biomarkers in ocular conditions to improve patient care as well as research.”
Lam and colleagues identified the first DHDDS mutation in 2011 while studying three siblings who developed retinitis pigmentosa and began losing their sight. They discovered that mutations in the DHDDS gene are more prevalent in persons of Ashkenazi Jewish descent than in the overall population.
Plasma and urinary ratios of dolichol-18 and dolichol-19 can be analyzed to differentiate retinitis pigmentosa patients from carriers and carriers from normal individuals, the authors wrote in the study abstract.
“The methodologies and procedures used for dolichol profiling are reliable, high-throughput and cost-effective,” they said.
Ziqiang Guan, PhD, and Rong Wen, MD, PhD, collaborated with Lam on the study, which was published online ahead of print in the Journal of Lipid Research. Guan is a research associate professor at Duke University Medical School. Wen is an associate professor of ophthalmology at Bascom Palmer.
Disclosure: A patent application based on the study findings has been filed by the University of Miami and Duke University.
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