{"id":15940,"date":"2010-06-11T05:50:47","date_gmt":"2010-06-11T08:50:47","guid":{"rendered":"http:\/\/www.inclusive.org.br\/?p=15940"},"modified":"2010-06-11T05:50:47","modified_gmt":"2010-06-11T08:50:47","slug":"descobertos-novos-genes-raros-do-autismo","status":"publish","type":"post","link":"https:\/\/inclusivenews.com.br\/?p=15940","title":{"rendered":"Descobertos novos genes raros do autismo"},"content":{"rendered":"<figure id=\"attachment_15961\" aria-describedby=\"caption-attachment-15961\" style=\"width: 158px\" class=\"wp-caption alignleft\"><a href=\"http:\/\/www.inclusivenews.com.br\/wp-content\/uploads\/2010\/06\/autismo_logo.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-15961\" title=\"autismo_logo\" src=\"http:\/\/inclusivenews.com.br\/wp-content\/uploads\/2010\/06\/autismo_logo.jpg\" alt=\"Pe\u00e7a de quebra-cabe\u00e7a azul\" width=\"158\" height=\"161\" \/><\/a><figcaption id=\"caption-attachment-15961\" class=\"wp-caption-text\">Pe\u00e7a de quebra-cabe\u00e7a azul<\/figcaption><\/figure>\n<p>Novos genes de susceptibilidade para o autismo e variantes raras do genoma foram identificados em doentes autistas, muitos deles encontrados apenas no indiv\u00edduo e n\u00e3o nos pais. Os resultados constam de um estudo internacional, em que Portugal participa.<\/p>\n<p>\u00c9 o maior estudo jamais realizado sobre autismo e envolve cerca de mil doentes com perturba\u00e7\u00f5es do espectro do autismo, entre eles cerca de 300 crian\u00e7as portuguesas que s\u00e3o seguidas no Hospital Pedi\u00e1trico de Coimbra. Os novos resultados do Autism Genome Project (AGP), cons\u00f3rcio internacional criado em 2002 e constitu\u00eddo por 120 cientistas provenientes de 11 pa\u00edses, entre os quais Portugal, s\u00e3o hoje publicados na revista cient\u00edfica &#8220;Nature&#8221;. E abrem a possibilidade de, no futuro, poder haver um diagn\u00f3stico precoce molecular do autismo.<\/p>\n<p>O que os investigadores conseguiram agora identificar foi que os pacientes com autismo tendem a possuir no seu genoma mais altera\u00e7\u00f5es submicrosc\u00f3picas &#8211; designadas Copy Number Variants (CNV&#8217;s) &#8211; do que os indiv\u00edduos controlo. E que muitas destas altera\u00e7\u00f5es no ADN n\u00e3o s\u00e3o herdadas dos pais, mas correspondem a altera\u00e7\u00f5es dos cromossomas do pr\u00f3prio indiv\u00edduo, como acontece na Trissomia 21. As causas para o aparecimento dos CNV&#8217;s n\u00e3o s\u00e3o ainda bem conhecidas, mas verifica-se que podem incluir entre um a 20 genes, parte dos quais j\u00e1 se sabe serem importantes no autismo ou na defici\u00eancia mental.<\/p>\n<p>Outra das descobertas dos investigadores \u00e9 que, enquanto isoladamente cada uma destas altera\u00e7\u00f5es \u00e9 rara &#8211; isto \u00e9, respons\u00e1vel por uma frac\u00e7\u00e3o diminuta de casos de autismo &#8211; no seu conjunto estas variantes poder\u00e3o levar \u00e0 doen\u00e7a numa grande percentagem dos indiv\u00edduos afectados. O que acentua a convic\u00e7\u00e3o dos cientistas de que &#8220;existe uma enorme variabilidade gen\u00e9tica na base do autismo&#8221;, disse, ao JN, Astrid Vicente, investigadora-principal da Unidade de Investiga\u00e7\u00e3o e Desenvolvimento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as Cr\u00f3nicas do Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge (INSA), que participa neste projecto.<\/p>\n<p>Num &#8220;futuro long\u00ednquo&#8221;, o que estes resultados podem vir a permitir \u00e9 que passe a existir um teste molecular que permita fazer um diagn\u00f3stico mais precoce do autismo, visto que actualmente o \u00fanico diagn\u00f3stico que existe \u00e9 comportamental. Por norma, os pais t\u00eam de esperar at\u00e9 aos dois\/tr\u00eas anos para terem a certeza de que os comportamentos dos filhos correspondem a um diagn\u00f3stico de autismo.<\/p>\n<p>Guiomar Oliveira, m\u00e9dica do Hospital Pedi\u00e1trico de Coimbra que tamb\u00e9m participa no estudo, admite que esse diagn\u00f3stico possa vir a permitir &#8220;tirar d\u00favidas mais precocemente&#8221;, mas o que aponta como mais relevante neste estudo \u00e9 o facto de apontar &#8220;causas at\u00e9 ent\u00e3o desconhecidas&#8221;. &#8220;\u00c9 um avan\u00e7o enorme&#8221;, diz, garantindo que &#8220;todos os dias&#8221; tem estado a encontrar respostas para casos de meninos cujo autismo n\u00e3o tinha qualquer explica\u00e7\u00e3o, o que acontecia em 80% dos casos.<\/p>\n<p>_____________________<\/p>\n<p><strong>Fonte:<\/strong> <a href=\"http:\/\/jn.sapo.pt\/PaginaInicial\/Sociedade\/Interior.aspx?content_id=1589374\">Jornal \u00a0de Not\u00edcias<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Projecto internacional, que integra investigadores edoentes portugueses, abre portas a diagn\u00f3stico precoce.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-container-style":"default","site-container-layout":"default","site-sidebar-layout":"default","disable-article-header":"default","disable-site-header":"default","disable-site-footer":"default","disable-content-area-spacing":"default","footnotes":""},"categories":[4],"tags":[34],"class_list":["post-15940","post","type-post","status-publish","format-standard","hentry","category-noticias","tag-autismo"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Descobertos novos genes raros do autismo -<\/title>\n<meta name=\"robots\" content=\"index, follow, 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