El terme de discapacitat intel\u00b7lectual engloba un gran nombre d’entitats cl\u00edniques, algunes amb causa coneguda i altres d’origen incert. Per exemple la S\u00edndrome de Down es deguda a una c\u00f2pia extra del cromosoma 21 i la S\u00edndrome de Rett \u00e9s en part causada per la mutaci\u00f3 en l’interruptor de control dels gens anomenat MeCP2. <\/p>\n
En altres casos els mecanismes pels quals es produeixen no s’han identificat clarament, o \u00e9s en el cas de la majoria dels trastorns classificats en el gran paraig\u00fces del terme autisme. Avui, un article publicat a la revista Genetics in Medicine, per Manel Esteller, director del Programa d’Epigen\u00e8tica i Biologia del C\u00e0ncer (PEBC) de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), Investigador ICREA i Professor de Gen\u00e8tica de la Universitat de Barcelona, descobreix un mecanisme que identifica una causa de discapacitat intel\u00b7lectual en aquests casos. <\/p>\n
“Hem analitzat el genoma de 215 pacients amb discapacitat intel\u00b7lectual, autisme o s\u00edndrome de Rett, en els quals no s’havien trobat cap alteraci\u00f3 gen\u00e8tica en els gens cl\u00e0ssicament associats a aquests quadres cl\u00ednics, per veure si aconsegu\u00edem trobar una causa molecular. I aquest proc\u00e9s ens ha perm\u00e8s detectar un nou gen mutat que podria ser causant d’aquests trastorns. ” ha explicat Manel Esteller. <\/p>\n
“Concretament el gen identificat s’anomena JMJD1C (Jumonji Domain containing 1C) i es tracta d’un gen epigen\u00e8tic, \u00e9s a dir la seva funci\u00f3 normal \u00e9s controlar l’activitat d’altres gens. Nom\u00e9s un petit percentatge de la discapacitat intel\u00b7lectual no filiada \u00e9s deu a la mutaci\u00f3 d\u2019aquest gen per\u00f2 aquesta troballa suggereix que s\u00f3n molts gens amb baixa freq\u00fc\u00e8ncia d’alteraci\u00f3 els responsables dels casos sense causa desconeguda. Vam demostrar a m\u00e9s que el gen caracteritzat s’uneix al gen MeCP2 per la qual cosa tamb\u00e9 podria contribuir als casos de S\u00edndrome de Rett at\u00edpics “explica Esteller. <\/p>\n
“Aquest estudi ha estat possible gr\u00e0cies a les ajudes rebudes des de la Uni\u00f3 Europea, les associacions catalana i espanyola de la S\u00edndrome de Rett, una campanya de micromecenatge a Verkami i les fundacions Daniel Bravo i Finestrelles. El que demostra la implicaci\u00f3 de la societat civil en la investigaci\u00f3 “conclou l’investigador. <\/p>\n
S\u00e1ez MA, Fern\u00e1ndez-Rodr\u00edguez J, Moutinho C, Sanchez-Mut JV, Gomez A i, Vidal I, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caritat OJ, Huertas D, Gelp\u00ed JL, Orozco M, L\u00f3pez-Doriga A, Mil\u00e0 M, Perez-Jurat LA, Pineda M, Armstrong J, L\u00e1zaro C, Esteller M. Mutations n JMJD1C Are Involved in Rett Syndrome and Intellectual Disability. Genetics in Medicine, doi: 10.1038 \/ gim.2015.100, 2015.<\/p>\n","protected":false},"excerpt":{"rendered":"
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