{"id":76932,"date":"2020-08-26T12:05:33","date_gmt":"2020-08-26T10:05:33","guid":{"rendered":"http:\/\/ibecbarcelona.eu\/?p=76932"},"modified":"2020-09-10T15:00:06","modified_gmt":"2020-09-10T13:00:06","slug":"maria-demestre-experta-en-connexions-neuromusculars-i-malalties-associades-suneix-a-libec-des-dalemanya","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/maria-demestre-experta-en-connexions-neuromusculars-i-malalties-associades-suneix-a-libec-des-dalemanya\/","title":{"rendered":"Maria Demestre, experta en connexions neuromusculars i malalties associades, s’uneix a l’IBEC des d’Alemanya"},"content":{"rendered":"

\"\"<\/p>\n

Esquerra: Maria Demestre, experta en connexions neuromusculars i malalties associades. Dreta: imatges del seu \u00faltim article, liderat per la Universitat d\u00b4Ulm, Alem\u00e0nia, i publicat a la revista Sci. Transl. Med<\/a>.<\/h6>\n

 <\/p>\n

La Maria, llicenciada en Biologia per la Universitat Aut\u00f2noma de Barcelona (UAB)<\/span>, va obtenir el seu doctorat en Neurofisiologia al <\/span>King’s<\/span> College de Londres. Des de llavors, ha desenvolupat un inter\u00e8s en els trastorns del desenvolupament neurol\u00f2gic i <\/span>neurodegeneratiu<\/span>, com els trastorns de l’espectre autista (TEA) i l’esclerosi lateral<\/span> amiotr\u00f2fica<\/span> (ELA), i en la recerca de noves eines per al modelatge de malalties i estrat\u00e8gies per a les proves de compostos.<\/span>\u00a0<\/span><\/p>\n

L’experi\u00e8ncia de Maria <\/span>Demestre<\/span> en aquests camps la converteix en una valuosa incorporaci\u00f3 a<\/span>l<\/span> grup <\/span>Smart<\/span> Nano-Bio-<\/span>Devices<\/span> de l’I<\/span>BEC, que desenvolupa sistemes, <\/span>nanobots<\/span> i biosensors per a tractar, diagnosticar i controlar una varietat de malalties.<\/span>\u00a0<\/span><\/p>\n

\n

Estic encantada d’unir-me a l’IBEC i tenir l’oportunitat de contribuir amb la meva experi\u00e8ncia per donar a la bioenginyeria un enfocame<\/span><\/i><\/b>nt biom\u00e8dic.<\/span><\/i><\/b>\u00a0<\/span><\/p>\n

Maria <\/span><\/b>Demestre<\/span><\/b>\u00a0<\/span><\/p>\n<\/blockquote>\n

\u00a0<\/span><\/p>\n

Prote\u00efna Shank3 i trastorn de l’espectre autista (TEA)<\/span><\/b>\u00a0<\/span><\/p>\n

Un tipus de TEA en el qual s’observa comunament hipotonia en els infants \u00e9s la s\u00edndrome de <\/span>Phelan-McDermid<\/span> (PMDS), que \u00e9s el resultat de delecions heterozig\u00f2tiques del bra<\/span>\u00e7 llarg del cromosoma 22 (22q13.3) incloent Shank3 o per una mutaci\u00f3 en el gen Shank3. La defici\u00e8ncia resultant en Shank3, una prote\u00efna que \u00e9s important en el sistema nervi\u00f3s central (SNC), condueix als d\u00e8ficits socials observats en PMDS. En un nou article<\/span> publicat a la prestigiosa revista <\/span>Science<\/span><\/i> Translational<\/span><\/i> Medicine<\/span><\/i>, es descriu com la defici\u00e8ncia de la prote\u00efna Shank3 afecta el desenvolupament dels teixits musculars, el que pot conduir a un baix to muscular en nadons i nens amb PMDS, que poden persistir<\/span> fins a l’edat adulta. Els investigadors han demostrat que Shank3 tamb\u00e9 juga un paper clau en el desenvolupament muscular inicial i en la maduraci\u00f3, suggerint que aix\u00f2 podria actuar com un objectiu terap\u00e8utic potencial. L’estudi, realitzat per l’Institut d<\/span>‘Anatomia i Biologia Cel\u00b7lular de la Universitat <\/span>d’Ulm<\/span>, va ser <\/span>codirigit<\/span> per Maria <\/span>Demestre<\/span>, Anne-<\/span>Kathrin<\/span> Lutz<\/span> i <\/span>Tobias<\/span> B\u00f6ckers<\/span>.<\/span>\u00a0<\/span><\/p>\n

Fins ara, els processos biol\u00f2gics darrere de la hipotonia associada a l’autisme no s’entenien b\u00e9. Aquest treball actual descriu<\/span> per primera vegada l’efecte de la defici\u00e8ncia de Shank3 en el desenvolupament de la unitat motora. L’estudi va trobar que els nostres cossos requereixen la prote\u00efna Shank3 no nom\u00e9s per dur a terme processos en el SNC, sin\u00f3 tamb\u00e9 per ajudar a fer que els n<\/span>ostres m\u00fasculs creixin i madurin. De fet, la manca de Shank3 interromp tots els elements de sistema motor voluntari, incloses les neurones motores, les unions neuromusculars i els m\u00fasculs estriats. Amb aquest descobriment, els investigadors han descobert e<\/span>l que pot causar un baix to muscular en pacients amb PMDS.<\/span>\u00a0<\/span><\/p>\n

M\u00e9s espec\u00edficament, la defici\u00e8ncia de Shank3 va causar diversos defectes importants en la unitat motora, com l’escur\u00e7ament dels discos Z (una unitat b\u00e0sica de teixit muscular) i la reducci\u00f3 de l’ag<\/span>rupaci\u00f3 del receptor d’acetilcolina (que est\u00e0 involucrat en la contracci\u00f3 muscular) en les c\u00e8l\u00b7lules mare derivades del pacient. Els investigadors van confirmar que aix\u00f2 estava relacionat amb el baix to muscular observat en pacients en analitzar ratolins a<\/span>mb alteracions en el gen Shank3 i bi\u00f2psies musculars de pacients amb PMDS de diferents edats. En aquestes \u00faltimes, es va observar un Shank3 redu\u00eft en un lactant amb PMDS en comparaci\u00f3 amb els controls, per\u00f2 no en pacients adults, possiblement a causa de pr<\/span>ocessos compensatoris naturals.<\/span>\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

Un nou objectiu terap\u00e8utic<\/span><\/b>\u00a0<\/span><\/p>\n

Aquests defectes de la unitat motora podrien <\/span>retroalimentar<\/span> el SNC i influir en el desenvolupament social del pacient. A m\u00e9s d’aix\u00f2, estudis previs han demostrat que els d\u00e8ficits motors poden afec<\/span>tar el desenvolupament de la interacci\u00f3 social en nens amb TEA. Per tant, els autors suggereixen que les estrat\u00e8gies terap\u00e8utiques dirigides a la hipotonia podrien ser molt prometedores en el tractament de nadons i nens amb PMDS. Els investigadors van desc<\/span>obrir que l’administraci\u00f3 de liti o <\/span>Tirasemtiv<\/span>, un medicament que activa els m\u00fasculs esquel\u00e8tics, va millorar el to muscular en ratolins amb defici\u00e8ncia de Shank3. M\u00e9s investigaci\u00f3 cl\u00ednica ser\u00e0 necess\u00e0ria per a explorar aquesta possible via terap\u00e8utica i e<\/span>ls seus efectes sobre el desenvolupament fisiol\u00f2gic, cognitiu i social de les persones amb PMDS.<\/span>\u00a0<\/span><\/p>\n

\n

Aquesta investigaci\u00f3 ofereix una possible explicaci\u00f3 biol\u00f2gica per a la hipotonia observada en nadons amb s\u00edndrome de <\/span><\/i><\/b>Phelan-McDermid<\/span><\/i><\/b>, \u00e9s a dir, que la defici<\/span><\/i><\/b>\u00e8ncia de prote\u00efna Shank3 interromp la maduraci\u00f3 de la unitat motora.<\/span><\/i><\/b>\u00a0<\/span><\/p>\n

Mar\u00eda <\/span><\/b>Demestre<\/span><\/b>\u00a0<\/span><\/p>\n<\/blockquote>\n

\u00a0<\/span><\/p>\n

Article de refer\u00e8ncia:<\/span><\/b>\u00a0<\/span><\/p>\n

A.-K. <\/span>Lutz<\/span>, S. <\/span>Pfaender<\/span>, B. <\/span>Incearap<\/span>, V. <\/span>Ioannidis<\/span>, I. <\/span>Ottonelli<\/span>, K. J. <\/span>F\u00f6hr<\/span>, J. <\/span>Cammerer<\/span>, M. <\/span>Zoller<\/span>, J. <\/span>Higelin<\/span>, F. <\/span>Giona<\/span>, M. <\/span>Stetter<\/span>, N. <\/span>Stoecker<\/span>, N. O. <\/span>Alami<\/span>, M. <\/span>Sch\u00f6n<\/span>, M. <\/span>Orth<\/span>, S. <\/span>Liebau<\/span>, G. Barbi, A. M. <\/span>Grabrucker<\/span>, R. <\/span>Delorme<\/span>, M. <\/span>Fauler<\/span>, B. Mayer, S. Jesse, F. <\/span>Roselli<\/span>, A. C. <\/span>Ludolph<\/span>, T. <\/span>Bourgeron<\/span>, C. <\/span>Verpelli<\/span>, M. <\/span>Demestre<\/span>, T. M. <\/span>Boeckers<\/span>, <\/span>Autism-associated<\/span> SHANK3 <\/span>mutations<\/span> impair<\/span> maturation<\/span> of neuromuscular <\/span>junctions<\/span> and<\/span> striated<\/span> muscles.<\/span><\/a> Sci<\/span>. <\/span>Transl<\/span>. <\/span>Med<\/span>. 12, eaaz3267 (2020).<\/span>\u00a0<\/span><\/p>\n

Explicaci\u00f3 de les figures: Es van analitzar bi\u00f2psies de m\u00fascul esquel\u00e8tic de pacients amb PMDS a diferents edats i controls de la mateixa edat. (B) El m\u00fascul esquel\u00e8tic hum\u00e0 sagital d’un donant sa es va marcar amb Shank3 (verd) \/ alfa-actinina (vermell) demostrant una forta localitzaci\u00f3 de Shank3 al sarc\u00f2mer muscular. (Imatge extreta de Lutz et al., Science Translational medicine 2020).<\/p>\n

\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

Maria Demestre, cient\u00edfica s\u00e8nior i experta en la definici\u00f3 d’alteracions moleculars i factors neurofisiol\u00f2gics en les neurones, del m\u00fascul esquel\u00e8tic i les connexions neuromusculars que condueixen a malalties s’uneix a l’IBEC, dins el grup Smart Nano-Bio-Devices. <\/h3>\n

En un article recent, dirigit per la Universitat d’Ulm, a Alemanya d’autoria compartida i codirigit per Demestre, diversos investigadors descriuen l’efecte de la prote\u00efna Shank3 en els teixits musculars de pacients amb trastorn d’autisme. <\/p>\n","protected":false},"author":4,"featured_media":76916,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[98],"tags":[1140],"post_formats":[],"class_list":["post-76932","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-institucionals","tag-samuel-sanchez-ca"],"yoast_head":"\nMaria Demestre, experta en connexions neuromusculars i malalties associades, s'uneix a l'IBEC des d'Alemanya - 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\/maria-demestre-experta-en-connexions-neuromusculars-i-malalties-associades-suneix-a-libec-des-dalemanya\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Maria Demestre, experta en connexions neuromusculars i malalties associades, s'uneix a l'IBEC des d'Alemanya - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"Maria Demestre, cient\u00edfica s\u00e8nior i experta en la definici\u00f3 d'alteracions moleculars i factors neurofisiol\u00f2gics en les neurones, del m\u00fascul esquel\u00e8tic i les connexions neuromusculars que condueixen a malalties s'uneix a l'IBEC, dins el grup Smart Nano-Bio-Devices. 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