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From the Ottoman Empire, a genetic mutation persists

Yale Medicine Magazine, 2014 - Autumn


At the height of the Ottoman Empire—16 generations ago—a single individual passed on a genetic mutation that still afflicts Turkish children with a rare neurodegenerative disorder. In the April 24 issue of Cell, researchers identified a mutation in a gene involved in tRNA metabolism as the cause of the disorder that results in intellectual disability, seizures, delayed motor development, and atrophy in several regions of the brain. “By dissecting the genetic basis of these neurodevelopmental disorders, we are gaining fundamental insight into basic physiological mechanisms important for human brain development and function,” said Murat Günel, M.D., HS ’98, Nixdorff-German Professor of Neurosurgery and study co-author. “We learn a lot about normal biology by studying what happens when things go wrong.”

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