{"id":3024,"date":"2013-07-08T15:45:00","date_gmt":"2013-07-08T19:45:00","guid":{"rendered":"https:\/\/www.med.unc.edu\/neuroscience\/unc-researchers-discover-a-gene2019s-key-role-in-building-the-developing-brain2019s-scaffolding\/"},"modified":"2018-07-05T14:54:44","modified_gmt":"2018-07-05T18:54:44","slug":"unc-researchers-discover-a-gene2019s-key-role-in-building-the-developing-brain2019s-scaffolding","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/neuroscience\/unc-researchers-discover-a-gene2019s-key-role-in-building-the-developing-brain2019s-scaffolding\/","title":{"rendered":"Anton lab publishes research on a gene\u2019s key role in building the developing brain\u2019s scaffolding"},"content":{"rendered":"

<\/p>\n

The gene, Arl13b, is necessary for the proper construction of the cerebral cortex. The finding offers new insights on normal brain development and illuminates some of the factors behind Joubert\u2019s syndrome, a rare neurological disorder.<\/p>\n

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\n A mutated Arl13b gene caused neurons (red, green) to form clusters and other malformations in this mouse brain. <\/span> <\/span><\/div>\n
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Sunday, June 30, 2013<\/p>\n

CHAPEL HILL, N.C. \u2013 Researchers have pinpointed the role of a gene known as Arl13b in guiding the formation and proper placement of neurons in the early stages of brain development. Mutations in the gene could help explain brain malformations often seen in neurodevelopmental disorders.<\/p>\n

The research, led by a team at the University of North Carolina School of Medicine, was published<\/a> June 30 in the journal Nature Neuroscience<\/a>.<\/p>\n

\u201cWe wanted to get a better sense of how the cerebral cortex is constructed,\u201d said senior study author Eva Anton, PhD<\/a>, a professor in the Department of Cell Biology and Physiology and a member of the UNC Neuroscience Center<\/a>. \u201cThe cells we studied \u2014 radial glial cells \u2014 provide a scaffolding for the formation of the brain by making neurons and guiding them to where they have to go. This is the first step in the formation of functional neuronal circuitry in the brain. This study gives us new information about the mechanisms involved in that process.\u201d<\/p>\n

The researchers became interested in the Arl13b gene because of its expression in a part of the cell called primary cilium and its association with a rare neurological disorder known as Joubert syndrome. The syndrome is characterized by brain malformations and autism like features.<\/p>\n

\u201cIn addition to helping us understand an important cellular mechanism involved in normal brain development, this study may offer an explanation for some of the malformations seen in Joubert syndrome patients,\u201d said Anton. Although there is no immediate clinical application for these patients, the study does help illuminate the factors behind the disease. \u201cIt shows what may have gone wrong in some of those patients that led to the malformations,\u201d said Anton.<\/p>\n

The cerebral cortex, the brain\u2019s \u201cgray matter,\u201d is responsible for higher-order functions such as memory and consciousness. Like the scaffolding builders use to move people and materials during construction, radial glial cells provide an instructive matrix to create the basic structural features of the cerebral cortex. Mistakes in the formation and development of radial glial cells can translate into structural problems in the brain as it develops, said Anton.<\/p>\n

Both mice and humans have the Arl13b gene. The researchers generated a series of mice with mutations on the Arl13b gene at different developmental stages to track the mutations\u2019 effects on brain development. They discovered that the gene is crucial to the radial glial cells\u2019 ability to sense signals through an appendage called the primary cilium. Without this signaling capability, the radial glia were unable to organize into an instructive scaffold capable of orchestrating the orderly formation of cerebral cortex. \u201cThe cilia in these cells play an important role in the initial setup of this scaffolding,\u201d said Anton. \u201cWithout a functioning Arl13b gene, the cells were not able to determine polarity and formed haphazardly. As a result, they formed a malformed cerebral cortex with ectopic clusters of neurons, instead of the orderly layers of neurons with appropriate connectivity that would be expected, in the developing brain.<\/p>\n

Co-authors include Holden Higginbotham, Jiami Guo, Yukako Yokota, Jingjun Li, Nisha Verma, Vladimir Gukkasyan and Joshua Hirt from UNC, and Nicole Umberger, Chen-Ying Su, and Tamara Caspary of Emory University.<\/p>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

<\/p>\n

The gene, Arl13b, is necessary for the proper construction of the cerebral cortex. The finding offers new insights on normal brain development and illuminates some of the factors behind Joubert\u2019s syndrome, a rare neurological disorder.<\/p>\n","protected":false},"author":80868,"featured_media":0,"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-3024","post","type-post","status-publish","format-standard","hentry","category-news","odd"],"acf":[],"yoast_head":"\nAnton lab publishes research on a gene\u2019s key role in building the developing brain\u2019s scaffolding | 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\" href=\"https:\/\/www.med.unc.edu\/neuroscience\/unc-researchers-discover-a-gene2019s-key-role-in-building-the-developing-brain2019s-scaffolding\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Anton lab publishes research on a gene\u2019s key role in building the developing brain\u2019s scaffolding | UNC Neuroscience Center\" \/>\n<meta property=\"og:description\" content=\"The gene, Arl13b, is necessary for the proper construction of the cerebral cortex. 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