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New hope for Prader-Willi syndrome
Prader-Willi syndrome is a syndrome characterized by poor feeding, with slow growth and weak muscles in infancy, followed by excessive eating, obesity and behavioral problems in childhood. It occurs in about one of every 15,000 births and has no cure.
If their findings continue to be verified in human studies, the Duke University developed drug could become the first treatment option for Prader-Willi syndrome.
"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. http://www.nature.com/ni/journal/vaop/ncurrent/full/ni.3654.html
Researchers screened more than 9,000 compounds. Using fluorescent markers on mouse embryonic fibroblasts, connective tissue producing collagen, they could see which molecules triggered cells to glow. Glowing indicated which were activating the maternal copy of the Prader-Willi gene.
A class of small molecules known as G9a inhibitors glowed, both in the mouse model of Prader-Willi syndrome and in human cells from patients with the disorder. G9a is an enzyme important in gene regulation.
"Our findings suggest that G9a inhibitors may play a role in regulating the silencing of parental chromosomes on certain genes that require an imprinting process for normal function," Jiang added. "This could provide a new insight for the molecular mechanism of genomic imprinting."
Study authors include Jing Fang, Lyndsey C Bolanos, Kwangmin Choi, Xiaona Liu, Susanne Christie, Shailaja Akunuru, Rupali Kumar, Dehua Wang, Xiaoting Chen, Kenneth D Greis, Peter Stoilov, Marie-Dominique Filippi, Jaroslaw P Maciejewski, Guillermo Garcia-Manero, Matthew T Weirauch, Nathan Salamonis, Hartmut Geiger, Yi Zheng & Daniel T Starczynowski
The study received support from the National Institutes of Health (HD077197, R01GM103893) and the Foundation for Prader-Willi Syndrome Research.
A class of small molecules, known as G9a inhibitors,
may play a role in turning off parental chromosomes.
BLUE represents father's chromosomes;
PINK represents mother's chromosomes
Image Credit:Prader Willi USA