{"id":3252,"date":"2015-08-11T15:35:00","date_gmt":"2015-08-11T19:35:00","guid":{"rendered":"https:\/\/www.med.unc.edu\/neuroscience\/zylka-lab-publishes-in-cell-on-genetic-mutation-that-increases-autism-risk\/"},"modified":"2018-07-05T14:10:58","modified_gmt":"2018-07-05T18:10:58","slug":"zylka-lab-publishes-in-cell-on-genetic-mutation-that-increases-autism-risk","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/neuroscience\/zylka-lab-publishes-in-cell-on-genetic-mutation-that-increases-autism-risk\/","title":{"rendered":"Zylka Lab Publishes in Cell on Genetic Mutation that Increases Autism Risk"},"content":{"rendered":"
\n

<\/p>\n

In an article published in the journal Cell, Zylka lab shows how a genetic mutation disables a regulatory molecular switch, creating an enzyme that cannot be turned off and leading to abnormal brain development and autism.<\/p>\n

\n
\"image2\"
Mark Zylka, PhD<\/figcaption><\/figure>\n<\/div>\n
\n

Mark Zylka, PhD, and lab is the first to show how one gene mutation disables a molecular switch and causes autism.<\/p>\n

Published in the journal <\/span>Cell<\/i><\/span><\/a>, their research shows that an enzyme called UBE3A can be switched off when a phosphate molecule is tacked onto UBE3A. In neurons and during normal brain development, this switch can be turned off and on, leading to tight regulation of UBE3A. But Zylka lab found that an autism-linked mutation destroys this regulatory switch. Destruction of the switch creates an enzyme that cannot be turned off. As a result, UBE3A becomes hyperactive and drives abnormal brain development and autism.<\/p>\n

\u201cGenetic studies are showing that there will be about 1,000 genes linked to autism. This means you could mutate any one of them and get the disorder. We found how one of these mutations works,\u201d said Zylka.<\/p>\n

For more information, visit the UNC Newsroom<\/a>.<\/p>\n

Watch their interviews on WUNC<\/a> and WRAL<\/a>.<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

<\/p>\n

In an article published in the journal Cell, Zylka lab shows how a genetic mutation disables a regulatory molecular switch, creating an enzyme that cannot be turned off and leading to abnormal brain development and autism.<\/p>\n","protected":false},"author":40519,"featured_media":3253,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-3252","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","odd"],"acf":[],"yoast_head":"\nZylka Lab Publishes in Cell on Genetic Mutation that Increases Autism Risk | UNC Neuroscience Center<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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