{"id":8035,"date":"2015-12-09T00:00:00","date_gmt":"2015-12-08T23:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2015\/12\/09\/descobreixen-una-causa-de-mutacions-que-no-es-troben-en-el-material-genetic\/"},"modified":"2020-05-13T19:47:23","modified_gmt":"2020-05-13T17:47:23","slug":"descobreixen-una-causa-de-mutacions-que-no-es-troben-en-el-material-genetic","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2015\/12\/descobreixen-una-causa-de-mutacions-que-no-es-troben-en-el-material-genetic\/","title":{"rendered":"Descobreixen una causa de mutacions que no es troben en el material gen\u00e8tic"},"content":{"rendered":"

Les prote\u00efnes s\u00f3n com el maons que formen les nostres c\u00e8l\u00b7lules i es fabriquen a partir de les ordres que d\u00f3na el nostre material gen\u00e8tic, l’ADN. En les malalties humanes les alteracions de l’ADN acaben per tant originant prote\u00efnes que no fan la seva funci\u00f3 normal, ja sigui per exc\u00e9s o per defecte. Per\u00f2 recentment s’han comen\u00e7at a trobar alteracions de les prote\u00efnes sense que hi hagi un dany evident del gen que les ha produ\u00eft. <\/p>\n

Un article publicat en Oncogene dirigit per Manel Esteller, director del Programa d’Epigen\u00e8tica i Biologia del C\u00e0ncer de l’Institut d’Investigacions Biom\u00e8diques de Bellvitge (IDIBELL), Investigador ICREA i Professor de Gen\u00e8tica de la Universitat de Barcelona, \u200b\u200bproporciona una explicaci\u00f3 per a aquest fenomen: la exist\u00e8ncia d’alteracions en una mol\u00e8cula interm\u00e8dia (ARN) que trasllada la informaci\u00f3 continguda en l’ADN a la prote\u00efna. <\/p>\n

“Hem trobat que entre un 5-10% dels tumors de pulm\u00f3, en comptes de tenir la dosi normal d’un gen (dues c\u00f2pies, una en el cromosoma matern i una altra al patern) posseeixen una sobredosi d’aquest, al voltant de 10 c\u00f2pies extres del gen “declara Manel Esteller, director de l’estudi. <\/p>\n

“El gen identificat (denominat ADAR1) s’encarrega de regular el nivell de mutacions en l’ARN, \u00e9s un gen editor. Les persones amb un exc\u00e9s d’aquest gen presenten un desequilibri en la composici\u00f3 d’aquesta mol\u00e8cula que acaba originant prote\u00efnes an\u00f2males que contribueixen al creixement dels tumors. Si estudiem aquests gens diana alterats no veur\u00edem mutacions en el seu ADN per\u00f2 s\u00ed en la prote\u00efna a causa d’aquestes alteracions en la seq\u00fc\u00e8ncia de la mol\u00e8cula interm\u00e8dia, l’ARN. <\/p>\n

“De forma gr\u00e0fica seria com dir que hi ha hagut un problema de ‘Lost in Translation’ (Error en la traducci\u00f3)” explica Dr Esteller i finalitza: “Ara ser\u00e0 important saber si aquest tipus d’alteraci\u00f3 \u00e9s com\u00fa a la resta de tumors humans, si ocorre de forma significativa en altres malalties i si hi ha alguna manera d’usar aquest coneixement per a un millor tractament\u201d. <\/p>\n

Anad\u00f3n C, Guil S, Sim\u00f3-Riudalb\u00e0s L, Moutinho C, Setien F, Mart\u00ednez-Card\u00fas A, Moran S, Villanueva A, Calaf M, Vidal A, Lla\u00e7 PA, Zondervan I, Savola S, Kohno T, Yokota J, Ribas de Pouplana L, Esteller M. Gene Amplification-Associated Overexpression of the RNA Editing Enzyme ADAR1 Enhances Human Lung tumorig\u00e8nesi. Oncogene, 2015 Dec 7. doi: 10.1038\/onc.2015.469. [Epub ahead of print]<\/p>\n","protected":false},"excerpt":{"rendered":"

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