{"id":16352,"date":"2015-04-24T08:27:00","date_gmt":"2015-04-24T08:27:00","guid":{"rendered":"http:\/\/ibecbarcelona.eu\/?p=16352"},"modified":"2015-05-20T12:29:49","modified_gmt":"2015-05-20T12:29:49","slug":"una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\/","title":{"rendered":"Una t\u00e8cnica d’edici\u00f3 gen\u00e8tica ofereix esperan\u00e7a per a les malalties heredit\u00e0ries"},"content":{"rendered":"
D\u2019esquerra a dreta: Dra. Salvadora C\u00edvico, Dr. Josep M. Campistol, Dr. Juan Carlos Izpis\u00faa-Belmonte, Dra. Dolors Manau, Dra. N\u00faria Montserrat i Dr. Francesc Cardellach.<\/h6>\n

Per a milers de dones a tot el m\u00f3n que s\u00f3n portadores d’una malaltia mitocondrial, tenir un fill sa pot ser un joc d’atzar. Aquest conjunt de malalties afecta les mitoc\u00f2ndries, petites centrals el\u00e8ctriques que generen energia a les c\u00e8l\u00b7lules del cos, i es transmeten de forma exclusiva de la mare al fill. L’\u00fanica opci\u00f3 per als pares que volen evitar que els seus fills heretin les malalties mitocondrials, \u00e9s rec\u00f3rrer al diagn\u00f2stic gen\u00e8tic preimplantacional per seleccionar els embrions, encara que aix\u00f2 no garanteix que el nad\u00f3 neixi sa.<\/p>\n

Ara, els investigadors han desenvolupat una t\u00e8cnica simple per eliminar les mutacions mitocondrials en \u00f2vuls o embrions en una fase primerenca del desenvolupament que t\u00e9 el potencial d’evitar que els nadons heretin les malalties mitocondrials.
\n“Actualment, no existeixen tractaments per a les malalties mitocondrials”, assenyala l’autor principal, Juan Carlos Izpis\u00faa Belmonte. “La nostra tecnologia pot oferir una nova esperan\u00e7a per als portadors de malalties mitocondrials que desitgin tenir fills sense la malaltia.”<\/p>\n

Les c\u00e8l\u00b7lules vives poden tenir centenars -o fins i tot milers- de mitoc\u00f2ndries i cadascuna d’elles cont\u00e9 el seu propi ADN, una petita col\u00b7lecci\u00f3 de 37 gens que s\u00f3n essencials per a la funci\u00f3 d’aquest org\u00e0nul. Les mutacions en aquests gens crucials causen una \u00e0mplia gamma de malalties i poden conduir a la fatalitat en el naixement, una esperan\u00e7a de vida de nom\u00e9s uns pocs anys, o provocar s\u00edmptomes durant d\u00e8cades.<\/p>\n

“La majoria d’estrat\u00e8gies actuals tracten de desenvolupar f\u00e0rmacs per als pacients que ja pateixen d’aquestes malalties”, apunta Alejandro Ocampo, investigador associat en el laboratori d\u2019Izpis\u00faa Belmonte i un dels primers autors del treball. “En lloc d’aix\u00f2, pensem en prevenir la transmissi\u00f3 d’aquestes mutacions de forma primerenca en el desenvolupament embrionari”.<\/p>\n

Els investigadors van rec\u00f3rrer a dos tipus de mol\u00e8cules, unes nucleases, que poden dissenyar-se per tallar fils espec\u00edfiques d’ADN i funcionar, aix\u00ed, com una mena de “tisores moleculars”. L’equip del Salk Institute va dissenyar nucleases per tallar nom\u00e9s l’ADN mitocondrial, en \u00f2vuls o embrions, que contenia mutacions que causen malalties, deixant a les mitoc\u00f2ndries sanes, intactes.<\/p>\n

En aquest estudi, els cient\u00edfics, utilitzant ratolins que contenen dos tipus d’ADN mitocondrial, van aconseguir prevenir selectivament la transmissi\u00f3 d’un dels tipus a la seg\u00fcent generaci\u00f3 usant nucleases espec\u00edfiques tant en els \u00f2vuls com en els embrions de ratol\u00ed. Els ratolins nascuts mitjan\u00e7ant aquesta t\u00e8cnica es van desenvolupar de forma normal en l’edat adulta. A m\u00e9s, aquest m\u00e8tode va permetre als investigadors reduir amb \u00e8xit els nivells d’ADN mitocondrial mutat responsable de dues malalties mitocondrials en humans.<\/p>\n

L’equip que ha participat en aquest estudi est\u00e0 ara investigant la possibilitat de traduir aquesta tecnologia a la cl\u00ednica en \u00f2vuls i embrions humans.
\nEl Dr. Josep Maria Campistol, Director M\u00e8dic de l’Hospital Cl\u00ednic, investigador de l’IDIBAPS i coautor de l’estudi, remarca la import\u00e0ncia que suposa per al pacient la combinaci\u00f3 dels estudis b\u00e0sics i cl\u00ednics, “i l’oportunitat de fer-ho amb una instituci\u00f3 com el Salk Institute i el Dr. Juan Carlos Izpis\u00faa, un dels referents mundials en investigaci\u00f3 b\u00e0sica”.<\/p>\n

N\u00faria Montserrat, l\u00edder de grup a l’Institut de Bioenginyeria de Catalunya, que ha participat en la caracteritzaci\u00f3 i disseny dels sistemes cel\u00b7lulars utilitzats en l’estudi, comenta: “la possibilitat de col\u00b7laborar amb els Hospitals Cl\u00ednic i Sant Joan de D\u00e9u de Barcelona, en el dia a dia, des del nostre laboratori en IBEC, ens permet estar en contacte amb cl\u00ednics experts en el camp de la malaltia mitocondrial i altres desordres de causa gen\u00e8tica”. “L’abordatge multidisciplinari liderat pel Dr. Izpis\u00faa des del Salk Institute posa de manifest la import\u00e0ncia de posar en com\u00fa les diferents \u00e0rees d’estudi en qu\u00e8 treballem”, afegeix.<\/p>\n

Un altre dels autors de l’estudi \u00e9s el Dr. Jaume Campistol, Cap del Servei de Neurologia de l’Hospital Sant Joan de D\u00e9u de Barcelona.<\/p>\n

—<\/p>\n

Article: <\/em><\/strong>Reddy et al. (2015) “Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing”\u00a0Cell<\/i>, dx.doi.org\/10.1016\/j.cell.2015.03.051<\/a><\/p>\n

—<\/p>\n

IBEC in the Media:<\/strong><\/p>\n

Ara: http:\/\/www.ara.cat\/societat\/tecnica-genetica-transmissio-malalties-hereditaries_0_1344465751.html<\/a><\/p>\n

Antena 3: http:\/\/www.antena3.com\/noticias\/salud\/enfermedades-hereditarias-podrian-evitarse-gracias-nueva-tecnica-genetica_2015042300352.html<\/a><\/p>\n

ABC: 2015 04 24 NMontserrat ABC Cientificos espan\u0303oles manipulan por vez primera ADN<\/a><\/p>\n

El Progreso: 2015 04 24 NMontserrat ElProgreso Una nueva tecnica geneitca podria evitar enfermedades hereditarias<\/a><\/p>\n

Regio 7: 2015 04 24 NMontserrat Regio7 Una nova tecnica evitara que es transmetin malaties hereditaries<\/a><\/p>\n

Diari de Girona: 2015 04 24 NMontserrat DiarideGirona Una tecnica evita que es transmetin les malaties hereditaries<\/a><\/p>\n

Diario Medico: 2015 04 24 NMontserrat DiaroMedico Corrigne el ADN mitocondrial con microcirugia genetica<\/a><\/p>\n

Expansion: 2015 04 24 NMontserrat ExpansionCatalunya Alianza catalana contra las enfermedades hereditarias<\/a><\/p>\n

Diario de Pontevedra: 2015 04 24 NMontserrat DiariodePontevedra Una nueva tecnica genetica podria evitar enfermedades hereditarias<\/a><\/p>\n

P\u00fablico: http:\/\/www.publico.es\/sociedad\/crean-tecnica-genetica-evitar-transmision.html<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

\"Cellforweb\"Investigadors de l’Hospital Cl\u00ednic, l’IDIBAPS, l’Hospital Sant Joan de D\u00e9u i l’Institut de Bioenginyeria de Catalunya (IBEC), han participat en un estudi liderat per cient\u00edfics de Salk Institute a La Jolla (Calif\u00f2rnia) en qu\u00e8 han utilitzat “tisores” moleculars per eliminar mutacions mitocondrials en \u00f2vuls de ratol\u00ed.<\/h3>\n

L’estudi el publica avui la revista Cell<\/em> i est\u00e0 liderat pel Dr. Juan Carlos Izpis\u00faa Belmonte, professor del Laboratori d’Expressi\u00f3 G\u00e8nica al Salk Institute.<\/p>\n","protected":false},"author":4,"featured_media":16358,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[96],"tags":[],"post_formats":[],"class_list":["post-16352","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-de-recerca"],"yoast_head":"\nUna t\u00e8cnica d'edici\u00f3 gen\u00e8tica ofereix esperan\u00e7a per a les malalties heredit\u00e0ries - Institute for Bioengineering of Catalonia<\/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:\/\/ibecbarcelona.eu\/ca\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Una t\u00e8cnica d'edici\u00f3 gen\u00e8tica ofereix esperan\u00e7a per a les malalties heredit\u00e0ries - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"Investigadors de l'Hospital Cl\u00ednic, l'IDIBAPS, l'Hospital Sant Joan de D\u00e9u i l'Institut de Bioenginyeria de Catalunya (IBEC), han participat en un estudi liderat per cient\u00edfics de Salk Institute a La Jolla (Calif\u00f2rnia) en qu\u00e8 han utilitzat "tisores" moleculars per eliminar mutacions mitocondrials en \u00f2vuls de ratol\u00ed. L'estudi el publica avui la revista Cell i est\u00e0 liderat pel Dr. Juan Carlos Izpis\u00faa Belmonte, professor del Laboratori d'Expressi\u00f3 G\u00e8nica al Salk Institute.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ibecbarcelona.eu\/ca\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\/\" \/>\n<meta property=\"og:site_name\" content=\"Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"article:published_time\" content=\"2015-04-24T08:27:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2015-05-20T12:29:49+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2015\/04\/Cellforweb.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"600\" \/>\n\t<meta property=\"og:image:height\" content=\"373\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"\u00c0ngels L\u00f3pez\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrit per\" \/>\n\t<meta name=\"twitter:data1\" content=\"\u00c0ngels L\u00f3pez\" \/>\n\t<meta name=\"twitter:label2\" content=\"Temps estimat de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"4 minuts\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\\\/\"},\"author\":{\"name\":\"\u00c0ngels L\u00f3pez\",\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/#\\\/schema\\\/person\\\/c212c6b589546130be67986b9290e2b8\"},\"headline\":\"Una t\u00e8cnica d’edici\u00f3 gen\u00e8tica ofereix esperan\u00e7a per a les malalties heredit\u00e0ries\",\"datePublished\":\"2015-04-24T08:27:00+00:00\",\"dateModified\":\"2015-05-20T12:29:49+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\\\/\"},\"wordCount\":854,\"publisher\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/ibecbarcelona.eu\\\/wp-content\\\/uploads\\\/2015\\\/04\\\/Cellforweb.jpg\",\"articleSection\":[\"Not\u00edcies de recerca\"],\"inLanguage\":\"ca\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\\\/\",\"url\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/una-tecnica-dedicio-genetica-ofereix-esperanca-per-a-les-malalties-hereditaries\\\/\",\"name\":\"Una t\u00e8cnica d'edici\u00f3 gen\u00e8tica ofereix esperan\u00e7a per a les malalties heredit\u00e0ries - 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