{"id":8091,"date":"2021-03-01T10:09:12","date_gmt":"2021-03-01T09:09:12","guid":{"rendered":"https:\/\/www.iqac.csic.es\/la-recerca-sobre-malalties-minoritaries-en-linstitut-de-quimica-avancada-de-catalunya\/"},"modified":"2026-06-16T10:47:05","modified_gmt":"2026-06-16T08:47:05","slug":"la-recerca-sobre-malalties-minoritaries-en-linstitut-de-quimica-avancada-de-catalunya","status":"publish","type":"post","link":"https:\/\/www.iqac.csic.es\/ca\/la-recerca-sobre-malalties-minoritaries-en-linstitut-de-quimica-avancada-de-catalunya\/","title":{"rendered":"La recerca sobre malalties minorit\u00e0ries en l’Institut de Qu\u00edmica Avan\u00e7ada de Catalunya"},"content":{"rendered":"

Dins de totes les recerques que es duen a terme en l’Institut de Qu\u00edmica Avan\u00e7ada de Catalunya<\/strong> del Consell Superior de Investigacions Cient\u00edfiques (CSIC)<\/strong><\/a>, set grups de recerca dediquen part dels seus esfor\u00e7os a l’estudi de les denominades \u201cMalalties Rares\u201d.<\/span><\/p>\n

S’engloben dins de malalties rares a aquelles malalties que afecten a menys de 5 individus per 10.000 habitants segons el criteri establert per la Uni\u00f3 Europea. Per tant, s\u00f3n trastorns o condicions poc freq\u00fcents que afecten una petita part de la poblaci\u00f3, per\u00f2 que en termes globals tenen incid\u00e8ncia sobre 26 milions de persones a Europa, i per tant, constitueixen un problema de salut global. Fins avui existeixen 6.172 malalties rares descrites.<\/span><\/p>\n

El <\/span>Dia Mundial de les Malalties Minorir\u00e0ries<\/span><\/a> se celebra l’\u00faltim dia del mes de febrer, des de l’any 2008. Depenent de l’any, el mes de febrer pot ser de trasp\u00e0s o no, i per aquesta caracter\u00edstica particular es va triar aquesta data, com una manera simb\u00f2lica d’associar aquesta raresa amb la malaltia.<\/span><\/p>\n

Amb l’objectiu de fer m\u00e9s visibles aquest tipus de malalties, el <\/span>IQAC-CSIC<\/span> s’uneix a la commemoraci\u00f3 d’aquest dia explicant els \u00faltims avan\u00e7os en el camp<\/span>.<\/span><\/p>\n

 <\/p>\n

El<\/span> grup de Qu\u00edmica d’\u00c0cids Nucleics<\/span><\/a> liderat per l’investigador <\/span>Ramon Eritja<\/b>, assessora al grup dels <\/span>Drs. R. Arter <\/b>i <\/span>B. Llamus\u00ed<\/b> en un projecte Prometeu de la Generalitat Valenciana, que t\u00e9 com a objectiu desenvolupar uns oligonucle\u00f3tidos que serveixin per al tractament de la <\/span>distr\u00f2fia miot\u00f2nica de tipus 1 <\/b>o <\/span>distr\u00f2fia miot\u00f2nica de Steinert<\/b>. Es tracta d’una malaltia neuromuscular, degenerativa i greu, que pot afectar diversos sistemes com el muscular, respiratori, card\u00edac, endocr\u00ed, ocular i sistema nervi\u00f3s central. Entre els seus s\u00edmptomes m\u00e9s caracter\u00edstics est\u00e0 la feblesa muscular, que juntament amb les arr\u00edtmies card\u00edaques s\u00f3n les seves principals causes de mortalitat. Aquesta malaltia que actualment pateixen 90.000 europeus, i que afecta per igual a nens i a persones adultes, encara no compta amb un tractament efectiu, encara que ja s’ha obtingut un primer candidat per a estudis cl\u00ednics.<\/span><\/p>\n

Ramon Crehuet<\/b>, pertanyent al <\/span>grup de Qu\u00edmica Te\u00f2rica i Computacional<\/span><\/a>, treballa amb una malaltia neurodegenerativa, anomenada <\/span>malaltia de Kennedy<\/b> o<\/span> atr\u00f2fia muscular progressiva o espinobulbar<\/b>. Forma part de la fam\u00edlia dels desordres de poliglutamina a la qual pertany la malaltia de Huntington. \u201cAquests desordres tenen lloc quan el fragment de poliglutamina d’una prote\u00efna excedeix un l\u00edmit. Aquests l\u00edmits depenen de cada prote\u00efna i no es coneix el motiu\u201d, explica el <\/span>Dr. Crehuet<\/b>. \u201cTampoc es coneix el motiu pel qual la toxicitat afecta b\u00e0sicament a les neurones, i no a totes les c\u00e8l\u00b7lules del cos\u201d aclareix l’investigador. El <\/span>grup de Qu\u00edmica Te\u00f2rica i Computacional<\/span><\/a>, estudien l’estructura del fragment de poliglutamina i de quina manera els amino\u00e0cids ve\u00efns de la prote\u00efna poden determinar l’estructura. Aquest aspecte \u00e9s clau, ja que l’estructura que adopta determina la seva propensidad a agregar-se i a interaccionar amb altres biomol\u00e8cules, i \u00e9s en aquestes interaccions on podria estar la clau per a entendre la seva toxicitat.<\/span><\/p>\n

La <\/span>cistinosis<\/b> \u00e9s una malaltia metab\u00f2lica caracteritzada per l’acumulaci\u00f3 de cristalls de <\/span>cistina<\/span> (<\/span>Cys2)<\/span> -forma <\/span>dim\u00e9rica<\/span> oxidada de l’amino\u00e0cid ciste\u00efna (<\/span>Cys)-<\/span>, a l’interior dels lisosomes de diferents \u00f2rgans i teixits. \u00c9s una malaltia gen\u00e8tica heredit\u00e0ria que pot donar lloc a diferents patologies com a raquitisme, s\u00edndrome de <\/span>Fanconi<\/span>, ceguesa, insufici\u00e8ncia renal, disfunci\u00f3 pulmonar, cerebral o muscular i mort prematura. <\/span>Ignacio Alfonso<\/b>, <\/span>Jordi Sol\u00e0<\/b> i <\/span>Daniel <\/b>Carbajo<\/b>, del<\/span> grup de Qu\u00edmica Supramolecular<\/span><\/a>, treballa en el desenvolupament d’un m\u00e8tode fluorescent econ\u00f2mic per a la quantificaci\u00f3 r\u00e0pida i senzilla de la <\/span>cistina<\/span> intracel\u00b7lular, que podria complementar els m\u00e8todes sofisticats que s’utilitzen actualment en els principals hospitals. Segons explica el <\/span>Dr Alfonso<\/b> \u201cla proposta pret\u00e9n dur a terme una evoluci\u00f3 del m\u00e8tode desenvolupat i patentat pel nostre grup en 2018, que detecta selectivament <\/span>Cys<\/span> i <\/span>Cys2<\/span> en orina humana, utilitzant un protocol simple i d’una hora de durada\u201d.<\/span><\/p>\n

Tamb\u00e9 en el camp del diagn\u00f2stic, el treball de<\/span> Lluisa Vilaplana<\/b> i <\/span>J.-Pablo Salvador<\/b>, est\u00e0 centrat en el desenvolupament de nous sistemes de diagn\u00f2stic basats en anticossos, per a aconseguir un m\u00e8tode de detecci\u00f3 preco\u00e7 i r\u00e0pid per a la <\/span>fibrosi qu\u00edstica<\/b>. Es tracta d’una malaltia gen\u00e8tica minorit\u00e0ria que es caracteritza per l’acumulaci\u00f3 anormal de moc esp\u00e8s en els pulmons, la qual cosa d’una manera progressiva limita la capacitat respirat\u00f2ria. Aquest fet ve associat a una important predisposici\u00f3 a patir infeccions persistents principalment causades per les esp\u00e8cies bacterianes Pseudomonas aeruginosa i Staphylococcus aureus. Aquestes infeccions s\u00f3n les principals responsables dels elevats nivells de mortalitat que sofreixen aquest tipus de pacients, els quals presenten una esperan\u00e7a de vida pr\u00f2xima als 45 anys. \u201cUn diagn\u00f2stic primerenc \u00e9s fonamental per a un millor pron\u00f2stic d’aquestes malalties, i en aquest cas concret, el disposar d’eines de detecci\u00f3 preco\u00e7 ser\u00e0 crucial per a evitar la cronificaci\u00f3 d’aquestes infeccions\u201d, explica <\/span>M. Pilar Marco<\/b>, responsable del <\/span>grup Nanobiotecnolog\u00eda per al Diagn\u00f2stic<\/span><\/a>.<\/span><\/p>\n

L’avan\u00e7 de la <\/span>nanomedicina<\/span> obre moltes portes i entre elles obre noves possibilitats en el desenvolupament de f\u00e0rmacs, com el que s’ha desenvolupat recentment per a la <\/span>malaltia rara de <\/b>Fabry<\/b>, amb una efic\u00e0cia millorada enfront dels tractaments existents autoritzats. Aquest important assoliment s’ha aconseguit dins del projecte europeu <\/span>Smart4Fabry<\/span>, que acaba ara despr\u00e9s de quatre anys de treball i en el qual han participat els investigadors del <\/span>grup Sistemes <\/span>Multivalentes<\/span> per a <\/span>Nanomedicina<\/span><\/a>, liderat per <\/span>Miriam Royo<\/b>.<\/span> La malaltia de <\/span>Fabry<\/span> \u00e9s una malaltia cr\u00f2nica debilitant a causa d’episodis recurrents de dolor sever dif\u00edcilment controlables amb analg\u00e8sics convencionals, i potencialment mortal. El nou medicament desenvolupat millora els tractaments actuals i ajuda a reduir els costos i a millorar la qualitat de vida dels pacients.<\/span><\/p>\n

Les<\/span> amiloidosis<\/b> associades a la transtiretina es caracteritzen per l’aparici\u00f3 de dip\u00f2sits d’aquesta prote\u00efna, ja sigui en la seva forma nativa o en forma d’una mutant puntual, podent afectar diferents \u00f2rgans. Una d’elles \u00e9s la <\/span>polineuropat\u00eda familiar amiloide (PAF)<\/b> o <\/span>malaltia d’Andrade<\/b>, malaltia rara heredit\u00e0ria que comen\u00e7a en edat primerenca afectant el sistema nervi\u00f3s perif\u00e8ric. Avui dia, una de les estrat\u00e8gies terap\u00e8utiques per a tractar aquesta malaltia es basa en l’estabilitzaci\u00f3 de l’estat natiu de la transtiretina amb mol\u00e8cules petites. La <\/span>Unitat de Qu\u00edmica de Glicoconjugados<\/span><\/a>, ha centrat la seva recerca en un projecte de descobriment de f\u00e0rmacs per a tractar aquest tipus de amiloidosis relacionades amb la transtiretina. \u201cEl projecte interdisciplinari ha comptat amb el finan\u00e7ament de la Fundaci\u00f3 Marat\u00f3 de TV3\u201d, comenta <\/span>Gemma Arsequell<\/b>, responsable de la Unitat.<\/span><\/p>\n

Gemma <\/b>Fabri\u00e0s<\/b>, <\/span>Josefina Casas<\/b>, <\/span>Jos\u00e9 Luis Abad<\/b> i <\/span>Antonio Delgado<\/b>, de la<\/span> Unitat de Recerca en Mol\u00e8cules <\/span>Bioactivas<\/span><\/a>, treballen tamb\u00e9 desenvolupant eines de diagn\u00f2stic de diferents tipus de malalties rares. Tant la <\/span>malaltia de <\/b>Farber<\/b>, com la <\/span>s\u00edndrome d’atr\u00f2fia muscular espinal amb epil\u00e8psia <\/b>miocl\u00f3nica<\/b> progressiva<\/b>, s\u00f3n causades per mutacions en el gen ASAH1, que codifica la <\/span>ceramidasa<\/span> \u00e0cida. En aquest cas, treballen en el desenvolupament de compostos que permeten mesurar de manera r\u00e0pida, f\u00e0cil i robusta l’activitat d’aquest enzim directament sobre c\u00e8l\u00b7lules procedents de pacients.<\/span><\/p>\n

Una altra l\u00ednia de recerca est\u00e0 centrada en els trastorns hereditaris del moviment, com la <\/span>paraparesia<\/b> esp\u00e0stica<\/b>, les<\/span> at\u00e0xies cerebel\u00b7loses<\/b>, o les<\/span> neuropat\u00edas<\/b> perif\u00e8riques<\/b>. El metabolisme dels l\u00edpids es troba desregulat en aquest espectre de malalties, per la qual cosa tracten de dur a terme la caracteritzaci\u00f3 dels l\u00edpids de les c\u00e8l\u00b7lules dels pacients amb la finalitat d’identificar <\/span>biomarcadores<\/span> i dianes terap\u00e8utiques. Finalment, treballen en el tractament de la malaltia de <\/span>Niemann<\/b> Pick<\/b> A\/B<\/b>. \u00c9s un grup de malalties heredit\u00e0ries, en les quals els l\u00edpids s’acumulen en les c\u00e8l\u00b7lules de la melsa, fetge i cervell. Actualment, la ter\u00e0pia existent \u00e9s el reempla\u00e7ament enzim\u00e0tic, per\u00f2 aquesta ter\u00e0pia no \u00e9s sempre \u00fatil, per la qual cosa estan focalitzats a trobar una ter\u00e0pia basada en <\/span>chaperonas<\/span> farmacol\u00f2giques.<\/span><\/p>\n

Encara que queda molt per fer, afortunadament, cada vegada s\u00f3n m\u00e9s els grups de recerca i el finan\u00e7ament destinat a l’estudi de les malalties rares. Una cosa totalment necess\u00e0ria ja que \u00e9s important recalcar, que encara que la prevalen\u00e7a d’aquestes patologies sigui baixa, afecta a milions de persones a tot el m\u00f3n i \u00e9s un greu problema de salut global.<\/span><\/p>\n

IQAC-CSIC Comunicaci\u00f3<\/b><\/p>\n","protected":false},"excerpt":{"rendered":"

Dins de totes les recerques que es duen a terme en l’Institut de Qu\u00edmica Avan\u00e7ada de Catalunya del Consell Superior de Investigacions Cient\u00edfiques (CSIC), set grups de recerca dediquen part dels seus esfor\u00e7os a l’estudi de les denominades \u201cMalalties Rares\u201d. S’engloben dins de malalties rares a aquelles malalties que afecten a menys de 5 individusContinue reading \u00abLa recerca sobre malalties minorit\u00e0ries en l’Institut de Qu\u00edmica Avan\u00e7ada de Catalunya\u00bb<\/span><\/a><\/p>\n","protected":false},"author":3,"featured_media":4183,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[73],"tags":[],"class_list":["post-8091","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","entry"],"acf":[],"yoast_head":"\nLa recerca sobre malalties minorit\u00e0ries en l'Institut de Qu\u00edmica Avan\u00e7ada de Catalunya | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC<\/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.iqac.csic.es\/la-investigacion-sobre-enfermedades-raras-en-el-instituto-de-quimica-avanzada-de-cataluna\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"La recerca sobre malalties minorit\u00e0ries en l'Institut de Qu\u00edmica Avan\u00e7ada de Catalunya | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC\" \/>\n<meta property=\"og:description\" content=\"Dins de totes les recerques que es duen a terme en l’Institut de Qu\u00edmica Avan\u00e7ada de Catalunya del Consell Superior de Investigacions Cient\u00edfiques (CSIC), set grups de recerca dediquen part dels seus esfor\u00e7os a l’estudi de les denominades \u201cMalalties Rares\u201d. 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