De Novo Schizophrenia Mutations Cluster in Specific Sets of Proteins in Key Brain Pathways

Genetic mutations in people with schizophrenia cluster in specific proteins offering a new window into the disorder, according to a team of scientists from major institutions around the world. In the largest genetic study of its kind, published online on January 22, 2014 in Nature, an international team led by scientists from Cardiff University examined the occurrence of new “de novo” genetic mutations in people with schizophrenia. Their study was entitled, “De Novo Mutations in Schizophrenia Implicate Synaptic Pathways:” lead author: Dr. Menachem Fromer—see link below). Working alongside teams from leading research institutions including the Icahn School of Medicine at Mount Sinai, New York, the Broad Institute of the Massachusetts Institute of Technology (MIT), and Harvard and Cambridge Universities, the scientists examined DNA blood samples from 623 schiophrenia sufferers and their parents. The study showed that de novo mutations, which are found in affected individuals, but not their parents, play a role in triggering the disorder but more importantly that they preferentially disrupt specific sets of proteins which have related functions in the brain. These pathways are involved in modulating the strength of connections between nerve cells and play important roles in brain development, learning, memory, and cognition. “We already had evidence from previous work in Cardiff supporting the importance of these pathways but the new findings, together with those from a related study published on the same day in Nature (“A Polygenic Burden of Rare Disruptive Mutations in Schizophrenia;” lead author: Dr.
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