If the findings by the Duke-led team bear out in human studies, the drug could become the first treatment option for Prader-Willi syndrome. The concept proven in this study could also apply immediately to other similar type of genomic imprinting disorders in which children only inherit an active copy of a gene from one parent. “Our findings are promising and indicate that we may have a path forward for the first time to treat the severe, life-limiting features of this genetic disorder,” said Yong-hui Jiang, M.D., Ph.D., associate professor in Duke’s departments of Pediatrics and Neurobiology. Jiang is senior author of a study published online Dec. 26 in the journal Nature Medicine. In most cases of Prader-Willi syndrome, the responsible gene in the region of chromosome 15 from the father is missing and the mother’s copy is silent. Jiang and colleagues focused their work on finding a way to activate the silent gene from the mother’s chromosome to recover the necessary gene function that would ordinarily be performed by the father’s gene. The researchers — including Bryan Roth, M.D., Ph.D, at the University of North Carolina at Chapel Hill and co-first authors Yuna Kim, Ph.D., and Hyeong-min Lee, Ph.D. — conducted screenings of more than 9,000 compounds. informative postUsing fluorescent marker in mouse embryonic fibroblasts, the researchers were able to see whether any of the small molecules triggered the cells to glow, which indicated they were capable of activating the maternal copy of the Prader-Willi gene.
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