{"id":10608,"date":"2016-08-10T11:20:12","date_gmt":"2016-08-10T18:20:12","guid":{"rendered":"https:\/\/vermont.salk.edu\/?post_type=disclosure&p=10608"},"modified":"2024-01-30T15:17:45","modified_gmt":"2024-01-30T23:17:45","slug":"neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain","status":"publish","type":"disclosure","link":"https:\/\/www.salk.edu\/zh\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/","title":{"rendered":"Neurodevelopmental model of Williams Syndrome offers insight into human social brain"},"content":{"rendered":"

LA JOLLA\u2014In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers at University of California, San Diego<\/a> and the Salk Institute have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain.<\/p>\n

The findings are published in the August 10th online edition of Nature<\/em><\/a>.<\/p>\n

Scientists investigated Williams syndrome<\/a> or WS, a rare genetic condition caused by deletion of one copy of 25 contiguous genes on chromosome 7, out of an estimated 30,000 genes in the brain. WS affects one in 10,000 people worldwide, and an estimated 20,000 Americans. The condition occurs equally in both genders and across cultures.<\/p>\n

\n

Click to view
\nClick to view addition resources on Williams syndrome\u00bb<\/a><\/p>\n<\/div>\n

WS results in a host of medical problems as well as a specific heart defect. Persons with the deletion typically display a distinctive face with a small, upturned nose, wide mouth, full lips and small chin and may also have dental and orthopedic problems. Neurologically, they have developmental delays, with severe spatial deficits, yet relative strengths in language use and face processing.<\/p>\n

\u201cAn interesting aspect is the typical hyper-social predisposition,\u201d said study co-author Ursula Bellugi<\/a>, EdD, director of the cognitive neuroscience lab at Salk and an adjunct professor at UC San Diego who has studied WS for years. \u201cPersons with the WS deletion tend to be overly friendly, overly trusting, drawn to strangers, yet anxious.\u201d<\/p>\n

But Bellugi said it has not been clear how genetics links to the behavioral aspects of WS. \u201cA human model for the disease could fill in the scientific gaps and would help to understand the mechanisms behind the disorder. WS is an elegant model for being able to go across levels,\u201d she said.<\/p>\n

\"williams-syndrome-neurons-muotri-(1)\"
Williams syndrome-derived neurons in culture<\/p>\n

Click here<\/a> for a high-resolution image. <\/p>\n

Credit: University of California, San Diego<\/figcaption><\/figure>\n

Co-author and Salk Professor \u9c81\u65af\u8482\u00b7\u76d6\u5947<\/a> says, \u201cBy using cutting-edge stem cell techniques, we were able to, for the first time, directly observe the behavior of cells with the genetic profile of WS. This cross-disciplinary research not only suggests potential new treatments for this remarkable behavioral syndrome but could also help us to better understand the fundamental biological processes underlying social interactions.\u201d<\/p>\n

Senior study author Alysson Muotri, PhD<\/a>, associate professor of pediatrics and cellular and molecular medicine in the UC San Diego School of Medicine, became intrigued by WS because the condition is so different from his usual research focus on autism, which is characterized by lower sociability and language skills.<\/p>\n

\u201cI was fascinated on how a genetic defect, a tiny deletion in one of our chromosomes, could make us friendlier, more empathetic and more able to embrace our differences,\u201d Muotri said.<\/p>\n

In recent years, Muotri and colleagues have created in vitro cellular models of autism using reprogrammed induced pluripotent stem cells (iPSC) derived from discarded baby teeth of children with autism, work dubbed the \u201ctooth fairy project.\u201d They did so again here.<\/p>\n

The team began with dental pulp cells extracted from teeth donated by young children with WS. The cells were reprogrammed to become neural progenitor cells able to form functional neuronal networks resembling the developing cortex of the human brain in a dish.<\/p>\n

\u201cWe discovered that WS neural progenitor cells failed to proliferate due to high levels of cell death,\u201d said Muotri. \u201cAnd as a consequence of the lower replication of progenitor cells, WS brains have reduced cortex surface area.\u201d<\/p>\n

Cultured WS neurons have a distinct morphology. They are more arborized (treelike, with many dendritic branches) than neurons derived from typically developing individuals. \u201cAt the functional level, they make more synapses or connections to other neurons than what you would expect,\u201d said Muotri. \u201cThat might underlie the WS super-social aspect and their gregarious human brain, giving insights into autism and other disorders that affect the social brain.\u201d<\/p>\n

The neuronal morphology was confirmed using a rare collection of WS postmortem brain tissue by Katerina Semendeferi, PhD, co-senior author and professor at UC San Diego Department of Anthropology. \u201cOne striking observation was that these cortical neurons in WS individuals are more complex than controls (typically developing children of same age). The morphological alterations that presumably appeared during WS gestation are kept postnatally.\u201d<\/p>\n

Muotri noted that the research represents one of the first efforts to use iPSCs and brain in-a-dish technology to generate novel insights about a disease process and not simply replicate data from other models.<\/p>\n

But beyond that, he believes studying WS may help explain what makes humans social beings \u2013 a key development in the evolution of humanity. \u201cIt was our social power that made us a collaborative species,\u201d said Muotri, \u201ccapable of dramatic transformation of our environment by creating poetry, music and technology.\u201d<\/p>\n

Co-authors include Thanathom Chailangkarn, UC San Diego and National Center for Genetic Engineering and Biotechnology, Pathum Thani, Thailand; Cleber A. Trujillo, Beatriz C. Freitas, Timothy T. Brown, Branka Hrvoj-Mihic, Lisa Stefanacci, M. Collin Ard, Kari L. Hanson, Sarah Romero and Anders M. Dale, UC San Diego; Roberto H. Herai, UC San Diego and Pontifica Universidade Catolica do Parana, Brazil; Diana X. Yu, Maria C. N. Marchetto, Cedric Bardy, Lauren McHenry, Anna J\u00e4rvinen, Yvonne M. Searcy, Michelle DeWitt, Wenny Wong and Philip Lai, Fred Gage, Salk Institute for Biological Studies; Bob Jacobs, Colorado College; Li Dai and Julie R. Korenberg, University of Utah.<\/p>\n

Funding support for this research came, in part, from the California Institute for Regenerative Medicine<\/a>, the National Institutes of Health<\/a>, NARSAD<\/a>, Engmann Foundation, JPB Foundation<\/a>, Helmsley Foundation<\/a> and Royal Thai Government.<\/p>\n

Content provided by the University of California, San Diego<\/em>. Click here for UCSD press release<\/a>.<\/p>","protected":false},"featured_media":10609,"template":"","faculty":[76,87],"disease-research":[124,168],"class_list":["post-10608","disclosure","type-disclosure","status-publish","has-post-thumbnail","hentry","faculty-rusty-gage","faculty-ursula-bellugi","disease-research-neuroscience-and-neurological-disorders","disease-research-williams-syndrome"],"acf":[],"yoast_head":"\nNeurodevelopmental model of Williams Syndrome offers insight into human social brain - Salk Institute for Biological Studies<\/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.salk.edu\/zh\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/\" \/>\n<meta property=\"og:locale\" content=\"zh_CN\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Neurodevelopmental model of Williams Syndrome offers insight into human social brain - Salk Institute for Biological Studies\" \/>\n<meta property=\"og:description\" content=\"LA JOLLA\u2014In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers at University of California, San Diego and the Salk Institute have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.salk.edu\/zh\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/\" \/>\n<meta property=\"og:site_name\" content=\"Salk Institute for Biological Studies\" \/>\n<meta property=\"article:modified_time\" content=\"2024-01-30T23:17:45+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2016\/08\/williams-syndrome-neurons-muotri-767.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"767\" \/>\n\t<meta property=\"og:image:height\" content=\"767\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"5 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/\",\"url\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/\",\"name\":\"Neurodevelopmental model of Williams Syndrome offers insight into human social brain - Salk Institute for Biological Studies\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.salk.edu\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/www.salk.edu\\\/wp-content\\\/uploads\\\/2016\\\/08\\\/williams-syndrome-neurons-muotri-767.jpg\",\"datePublished\":\"2016-08-10T18:20:12+00:00\",\"dateModified\":\"2024-01-30T23:17:45+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/#breadcrumb\"},\"inLanguage\":\"zh-CN\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"zh-CN\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/#primaryimage\",\"url\":\"https:\\\/\\\/www.salk.edu\\\/wp-content\\\/uploads\\\/2016\\\/08\\\/williams-syndrome-neurons-muotri-767.jpg\",\"contentUrl\":\"https:\\\/\\\/www.salk.edu\\\/wp-content\\\/uploads\\\/2016\\\/08\\\/williams-syndrome-neurons-muotri-767.jpg\",\"width\":767,\"height\":767},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/news-release\\\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/www.salk.edu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Neurodevelopmental model of Williams Syndrome offers insight into human social brain\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/#website\",\"url\":\"https:\\\/\\\/www.salk.edu\\\/\",\"name\":\"Salk Institute for Biological Studies\",\"description\":\"The Power of Science\",\"publisher\":{\"@id\":\"https:\\\/\\\/www.salk.edu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/www.salk.edu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"zh-CN\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/#organization\",\"name\":\"Salk Institute for Biological Studies\",\"url\":\"https:\\\/\\\/www.salk.edu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"zh-CN\",\"@id\":\"https:\\\/\\\/www.salk.edu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"http:\\\/\\\/www.salk.edu\\\/wp-content\\\/uploads\\\/2023\\\/03\\\/salk_logo_696.jpg\",\"contentUrl\":\"http:\\\/\\\/www.salk.edu\\\/wp-content\\\/uploads\\\/2023\\\/03\\\/salk_logo_696.jpg\",\"width\":696,\"height\":696,\"caption\":\"Salk Institute for Biological Studies\"},\"image\":{\"@id\":\"https:\\\/\\\/www.salk.edu\\\/#\\\/schema\\\/logo\\\/image\\\/\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Neurodevelopmental model of Williams Syndrome offers insight into human social brain - Salk Institute for Biological Studies","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.salk.edu\/zh\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/","og_locale":"zh_CN","og_type":"article","og_title":"Neurodevelopmental model of Williams Syndrome offers insight into human social brain - Salk Institute for Biological Studies","og_description":"LA JOLLA\u2014In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers at University of California, San Diego and the Salk Institute have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain.","og_url":"https:\/\/www.salk.edu\/zh\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/","og_site_name":"Salk Institute for Biological Studies","article_modified_time":"2024-01-30T23:17:45+00:00","og_image":[{"width":767,"height":767,"url":"https:\/\/www.salk.edu\/wp-content\/uploads\/2016\/08\/williams-syndrome-neurons-muotri-767.jpg","type":"image\/jpeg"}],"twitter_card":"summary_large_image","twitter_misc":{"Est. reading time":"5 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/","url":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/","name":"Neurodevelopmental model of Williams Syndrome offers insight into human social brain - Salk Institute for Biological Studies","isPartOf":{"@id":"https:\/\/www.salk.edu\/#website"},"primaryImageOfPage":{"@id":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/#primaryimage"},"image":{"@id":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/#primaryimage"},"thumbnailUrl":"https:\/\/www.salk.edu\/wp-content\/uploads\/2016\/08\/williams-syndrome-neurons-muotri-767.jpg","datePublished":"2016-08-10T18:20:12+00:00","dateModified":"2024-01-30T23:17:45+00:00","breadcrumb":{"@id":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/#breadcrumb"},"inLanguage":"zh-CN","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/"]}]},{"@type":"ImageObject","inLanguage":"zh-CN","@id":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/#primaryimage","url":"https:\/\/www.salk.edu\/wp-content\/uploads\/2016\/08\/williams-syndrome-neurons-muotri-767.jpg","contentUrl":"https:\/\/www.salk.edu\/wp-content\/uploads\/2016\/08\/williams-syndrome-neurons-muotri-767.jpg","width":767,"height":767},{"@type":"BreadcrumbList","@id":"https:\/\/www.salk.edu\/news-release\/neurodevelopmental-model-williams-syndrome-offers-insight-human-social-brain\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.salk.edu\/"},{"@type":"ListItem","position":2,"name":"Neurodevelopmental model of Williams Syndrome offers insight into human social brain"}]},{"@type":"WebSite","@id":"https:\/\/www.salk.edu\/#website","url":"https:\/\/www.salk.edu\/","name":"\u7d22\u5c14\u514b\u751f\u7269\u7814\u7a76\u6240","description":"The Power of Science","publisher":{"@id":"https:\/\/www.salk.edu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.salk.edu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"zh-CN"},{"@type":"Organization","@id":"https:\/\/www.salk.edu\/#organization","name":"\u7d22\u5c14\u514b\u751f\u7269\u7814\u7a76\u6240","url":"https:\/\/www.salk.edu\/","logo":{"@type":"ImageObject","inLanguage":"zh-CN","@id":"https:\/\/www.salk.edu\/#\/schema\/logo\/image\/","url":"http:\/\/www.salk.edu\/wp-content\/uploads\/2023\/03\/salk_logo_696.jpg","contentUrl":"http:\/\/www.salk.edu\/wp-content\/uploads\/2023\/03\/salk_logo_696.jpg","width":696,"height":696,"caption":"Salk Institute for Biological Studies"},"image":{"@id":"https:\/\/www.salk.edu\/#\/schema\/logo\/image\/"}}]}},"ACF":{"hero":"https:\/\/www.salk.edu\/wp-content\/uploads\/2016\/08\/header-williams-syndrome-neurons-muotri-1.jpg","line_1":"Neurodevelopmental model of Williams syndrome offers insight into human social brain","line_2":"","gallery":false,"paper_url":"http:\/\/www.nature.com\/nature\/journal\/vaop\/ncurrent\/full\/nature19067.html","journal_title":"Nature","paper_author_list":"Thanathom Chailangkarn,\tCleber A. Trujillo,\tBeatriz C. Freitas,\tBranka Hrvoj-Mihic,\tRoberto H. Herai,\tDiana X. Yu,\tTimothy T. Brown,\tMaria C. Marchetto,\tCedric Bardy,\tLauren McHenry,\tLisa Stefanacci,\tAnna J\u00e4rvinen,\tYvonne M. Searcy,\tMichelle DeWitt,\tWenny Wong,\tPhilip Lai,\tM. Colin Ard,\tKari L. Hanson,\tSarah Romero,\tBob Jacobs,\tAnders M. Dale,\tLi Dai,\tJulie R. Korenberg,\tFred H. Gage,\tUrsula Bellugi,\tEric Halgren,\tKaterina Semendeferi\t& Alysson R. Muotri","paper_title":"A human neurodevelopmental model for Williams syndrome","subhead":"Rare genetic condition produces individuals with extremely sociable personalities but research may also shed light on biology and behavior of persons with autism and other social disorders","home_photo":"","listing_photo":"","legacy_boilerplate":[],"hide_boilerplate":[],"disable_date":false,"listing_excerpt":"","descriptive_blurb":"","poster_quote":"","doi":"","has_journal_cover":false,"og_image_override":false},"_links":{"self":[{"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/disclosure\/10608","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/disclosure"}],"about":[{"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/types\/disclosure"}],"version-history":[{"count":2,"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/disclosure\/10608\/revisions"}],"predecessor-version":[{"id":46922,"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/disclosure\/10608\/revisions\/46922"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/media\/10609"}],"wp:attachment":[{"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/media?parent=10608"}],"wp:term":[{"taxonomy":"faculty","embeddable":true,"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/faculty?post=10608"},{"taxonomy":"disease-research","embeddable":true,"href":"https:\/\/www.salk.edu\/zh\/wp-json\/wp\/v2\/disease-research?post=10608"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}