Distr\u00f2fia miot\u00f2nica de tipus 1<\/strong><\/p>\n Al laboratori de Llamusi s\u2019estudia una malaltia que, tot i ser minorit\u00e0ria, \u00e9s la causa de distr\u00f2fia m\u00e9s freq\u00fcent en adults. \u201cEs pot manifestar a qualsevol edat i, com abans es manifesta, m\u00e9s greu \u00e9s. Les persones amb DM1 pateixen debilitat muscular i atr\u00f2fia, tot i que tamb\u00e9 afecta en l\u2019\u00e0mbit cognitiu i provoca apatia i somnol\u00e8ncia. Lamentablement, acaben morint per problemes card\u00edacs o respiratoris.\u201d Trobar un tractament efica\u00e7, segons Llamusi, \u00e9s dif\u00edcil, perqu\u00e8 els s\u00edmptomes varien molt segons el pacient.<\/p>\n
![\"\"](\"https:\/\/blog.caixaresearch.org\/wp-content\/uploads\/2020\/04\/ca\/Distrofia+CAT+la+CAIXA.jpg\")
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A la seva recerca, Llamusi hi ha descobert un mecanisme cel\u00b7lular que es desconeixia fins ara i que obre les portes a un nou enfocament terap\u00e8utic. \u201cSe sabia que, en els pacients, les MBNL, un tipus de prote\u00efnes reguladores importants, quedaven atrapades dins de les c\u00e8l\u00b7lules, de manera que no podien dur a terme la seva funci\u00f3. Nosaltres hem vist que, a m\u00e9s, es deixen de fabricar per l\u2019acci\u00f3 d\u2019unes mol\u00e8cules, les microARN.\u201d Llamusi est\u00e0 estudiant la forma de posar remei a aquesta situaci\u00f3. \u201cEstem desenvolupant f\u00e0rmacs que ataquen espec\u00edficament aquestes microARN perqu\u00e8 la prote\u00efna es torni a produir a nivells normals.\u201d Aquesta fita permetria dissenyar tractaments per revertir la malaltia.<\/p>\n
Retinitis pigmentosa<\/strong><\/p>\n Cosma, en canvi, treballa amb una malaltia minorit\u00e0ria que afecta la vista, la retinitis pigmentosa. \u201cEs produeix per p\u00e8rdua de fotoreceptors, que s\u00f3n les neurones de la retina que converteixen la llum en senyals nerviosos. Se sol manifestar durant la inf\u00e0ncia i els pacients van perdent la vista.\u201d Tot i que la velocitat de la progressi\u00f3 varia molt, la majoria dels afectats arriben als 40 anys sense cap mena de visi\u00f3.<\/p>\n
![\"\"](\"https:\/\/blog.caixaresearch.org\/wp-content\/uploads\/2020\/04\/ca\/Retinitis+CAT+la+Caixa.jpg\")
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De moment, les ter\u00e0pies que hi ha nom\u00e9s endarrereixen aquest proc\u00e9s, per\u00f2 no eviten el problema. Al laboratori de Cosma, no obstant aix\u00f2, han aconseguit un trobar enfocament innovador. \u201cHem identificat una ruta molecular que permet reprogramar c\u00e8l\u00b7lules i transformar-les en fotoreceptors nous.\u201d En el seu estudi, Cosma ha aconseguit trasplantar c\u00e8l\u00b7lules mare de la medul\u00b7la \u00f2ssia a la retina danyada en models de ratol\u00ed. De manera espont\u00e0nia, les c\u00e8l\u00b7lules es fusionen amb c\u00e8l\u00b7lules de la glia, tot generant c\u00e8l\u00b7lules noves h\u00edbrides capaces de reconvertir-se en nous fotoreceptors.<\/p>\n
![\"\"](\"https:\/\/blog.caixaresearch.org\/wp-content\/uploads\/2020\/04\/ca\/Microscopia+CRG.jpg\")
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Estructura tissular de retina sana. Els fotoreceptors es visualitzen en vermell. Imatge:CRG<\/span><\/p>\n De tots i per a tots<\/strong><\/p>\n Tot i que ambdues recerques encara no han comen\u00e7at els assajos cl\u00ednics, les dues cient\u00edfiques posen de relleu el paper dels pacients en el desenvolupament de tractaments. \u201cLes associacions de pacients s\u00f3n fonamentals. Al cap i a la fi, s\u00f3n ells els qui millor coneixen la malaltia. En construeixen i en mantenen registres, i participen en els assajos cl\u00ednics. A m\u00e9s, tenen una gran capacitat per treballar en equip i generar sin\u00e8rgies. S\u00f3n ells qui, moltes vegades, posen en contacte els millors equips de recerca per col\u00b7laborar en els estudis\u201d, conclou Llamusi.<\/p>\n
Per\u00f2 les sin\u00e8rgies en la recerca de les malalties minorit\u00e0ries no acaben aqu\u00ed. Sovint, la recerca en una d\u2019aquestes malalties aporta noves idees per tractar altres dol\u00e8ncies. \u00c9s el cas dels estudis de Llamusi i Cosma. Per exemple, el tractament amb inhibidors de microARN que est\u00e0 resultant tan prometedor per a la DM1 es podria tamb\u00e9 aplicar a dues malalties minorit\u00e0ries m\u00e9s, l\u2019at\u00e0xia espinocerebel\u00b7losa de tipus 8 i la malaltia X fr\u00e0gil. A m\u00e9s, s\u2019ha demostrat que nivells elevats de prote\u00efnes MBNL podrien ser \u00fatils per tractar determinats tipus de c\u00e0ncers. En el cas de la recerca de Cosma, de la seva banda, la reprogramaci\u00f3 mitjan\u00e7ada per fusi\u00f3 cel\u00b7lular ja s\u2019est\u00e0 estudiant com a possible ter\u00e0pia per a la malaltia de Parkinson i, en general, per a les dol\u00e8ncies neurodegeneratives.<\/p>\n<\/p><\/div>\n
<\/body><\/html><\/p>\n","protected":false},"excerpt":{"rendered":"<\/p>\n
Una de cada disset persones al m\u00f3n tindr\u00e0 una malaltia minorit\u00e0ria en algun moment de la vida. Una realitat que contrasta amb la falsa percepci\u00f3 que aquestes malalties tenen impacte en una \u00ednfima minoria de la poblaci\u00f3. El motiu \u00e9s que hi ha m\u00e9s de 7.000 malalties minorit\u00e0ries. I nom\u00e9s de 800 d\u2019aquestes malalties tenim prou coneixement com per tractar-les i afrontar-les.<\/p>\n
![\"\"](\"https:\/\/blog.caixaresearch.org\/wp-content\/uploads\/2020\/04\/ca\/DM+Malalties+minoritaries+la+Caixa.jpg\")
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Parlem amb dues investigadores, Beatriz Llamusi, de la Universitat de Val\u00e8ncia<\/a> (UV), i Pia Cosma, del Centre de Regulaci\u00f3 Gen\u00f2mica<\/a> (CRG). Llamusi, amb el projecte CaixaImpulse MBNL<\/a>, promou una soluci\u00f3 terap\u00e8utica per a la distr\u00f2fia miot\u00f2nica de tipus 1 (DM1),<\/p>\n","protected":false},"author":1,"featured_media":3000,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[519],"tags":[10,389,17,401,365,402],"class_list":["post-2041","post","type-post","status-publish","format-standard","hentry","category-investigacio","tag-caixaimpulse","tag-convocatoria-de-recerca-en-salut","tag-distrofia-miotonica","tag-malalties-minoritaries","tag-recerca","tag-retinitis-pigmentaria"],"acf":[],"yoast_head":"\nLa recerca en malalties minorit\u00e0ries: una aposta de tots i per a tots - Blog CaixaCi\u00e8ncia<\/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:\/\/blog.caixaresearch.org\/ca\/la-recerca-en-malalties-minoritaries-una-aposta-de-tots-i-per-a-tots\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"La recerca en malalties minorit\u00e0ries: una aposta de tots i per a tots - Blog CaixaCi\u00e8ncia\" \/>\n<meta property=\"og:description\" content=\"Una de cada disset persones al m\u00f3n tindr\u00e0 una malaltia minorit\u00e0ria en algun moment de la vida. Una realitat que contrasta amb la falsa percepci\u00f3 que aquestes malalties tenen impacte en una \u00ednfima minoria de la poblaci\u00f3. El motiu \u00e9s que hi ha m\u00e9s de 7.000 malalties minorit\u00e0ries. I nom\u00e9s de 800 d\u2019aquestes malalties tenim prou coneixement com per tractar-les i afrontar-les. Parlem amb dues investigadores, Beatriz Llamusi, de la Universitat de Val\u00e8ncia (UV), i Pia Cosma, del Centre de Regulaci\u00f3 Gen\u00f2mica (CRG). 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