
{"id":76119,"date":"2020-07-09T13:04:00","date_gmt":"2020-07-09T11:04:00","guid":{"rendered":"http:\/\/ibecbarcelona.eu\/?p=76119"},"modified":"2020-07-13T09:15:31","modified_gmt":"2020-07-13T07:15:31","slug":"nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\/","title":{"rendered":"Noves vies per identificar i avaluar tractaments per a la malaltia minorit\u00e0ria per defici\u00e8ncia CDKL5"},"content":{"rendered":"<p><span data-contrast=\"auto\">Les malalties rares s\u00f3n aquelles que pateixen menys de 5 persones per cada 10.000 habitants. Es calcula que hi ha prop de 7.000 malalties rares que afecten aproximadament al 7% de la poblaci\u00f3 mundial. Una d&#8217;elles \u00e9s la S\u00edndrome per defici\u00e8ncia CDKL5 (CDD per les sigles en angl\u00e8s), un trastorn que es va comen\u00e7ar a documentar fa menys de 20 anys i que provoca convulsions durant els primers mesos de vida, discapacitat intel\u00b7lectual severa i deteriorament motor. La CDD \u00e9s una malaltia rara i sense cura, dif\u00edcil de diagnosticar, que es manifesta en un de cada 45.000 naixements arreu del m\u00f3n. El 90% dels afectats per CDD s\u00f3n dones.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:6,&quot;335551620&quot;:6,&quot;335559739&quot;:160,&quot;335559740&quot;:276}\">\u00a0<\/span><\/p>\n<p>La principal limitaci\u00f3 pel que fa a la recerca de tractaments contra aquesta malaltia rara \u00e9s que els models animals de ratol\u00ed no desenvolupen epil\u00e8psia, un dels principals s\u00edmptomes de la CDD, dificultant d\u2019aquesta manera la identificaci\u00f3 de possibles estrat\u00e8gies terap\u00e8utiques. Ara, un estudi publicat a la portada de la prestigiosa revista S<em>cience Translational Medicine<\/em>,\u00a0liderat\u00a0pel\u00a0laboratori\u00a0del Prof. Di Giovanni de\u00a0l&#8217;Imperial\u00a0College\u00a0de Londres, en el\u00a0qual\u00a0participa\u00a0<a href=\"https:\/\/ibecbarcelona.eu\/ca\/\">l&#8217;Institut de Bioenginyeria de Catalunya (IBEC)<\/a>, ha identificat que, en pacients amb CDD , hi ha una alteraci\u00f3 en la percepci\u00f3 de dolor \u2014m\u00e9s\u00a0de el\u00a050%\u00a0dels\u00a0cuidadors\u00a0reporten que\u00a0els\u00a0seus\u00a0pacients\u00a0presenten una\u00a0percepci\u00f3\u00a0de dolor defectuosa\u2014 i que la prote\u00efna CDKL5 estaria relacionada amb aquest proc\u00e9s.<\/p>\n<p><span data-contrast=\"auto\">Aquesta nova funci\u00f3 associada a la CDKL5, i fins ara desconeguda, tamb\u00e9 s&#8217;ha observat en ratolins. Segons l&#8217;expert Arnau Hervera, del grup de <\/span><a href=\"\/?page_id=17115\"><span data-contrast=\"none\">Neurobiotecnologia molecular i cel\u00b7lular<\/span><\/a><span data-contrast=\"auto\"> de l&#8217;IBEC i<\/span> investigador associat a la UB a la Facultat de Biologia i de l&#8217;Institut de Neuroci\u00e8ncies de la UB (UBNeuro)\u00a0que ha participat en l&#8217;estudi: &#8220;Estem molt satisfets amb els resultats obtinguts, ja que s&#8217;obre una oportunitat \u00fanica per provar tractaments contra la CDD en models de ratol\u00ed, en entorns precl\u00ednics previs als assajos amb pacients reals &#8220;.<\/p>\n<h3><strong>El mecanisme del dolor i la CDD\u00a0<\/strong><\/h3>\n<p>La malaltia CDD s&#8217;origina per la mutaci\u00f3 del gen CDKL5, localitzat al cromosoma X, i s&#8217;expressa fortament al Sistema nervi\u00f3s central (SNC). Aquesta alteraci\u00f3 provoca la producci\u00f3 defectuosa de la prote\u00efna CDKL5, implicada en el desenvolupament neuronal i la formaci\u00f3 de les sinapsis, afectant a processos cognitius tan importants com l&#8217;aprenentatge o la mem\u00f2ria.<\/p>\n<p>Aquest estudi ha demostrat, per primera vegada, que el gen CDKL5 tamb\u00e9 s&#8217;expressa al Sistema nervi\u00f3s perif\u00e8ric (SNP). En concret, en neurones relacionades amb la percepci\u00f3 del dolor, tamb\u00e9 anomenades neurones nociceptives, ubicades als ganglis espinals. Aquest comportament s&#8217;ha identificat tant en ratolins com en nociceptors humans de c\u00e8l\u00b7lules mare pluripotents indu\u00efdes. &#8220;Aquest mecanisme regulador in\u00e8dit, dependent de la prote\u00efna CDKL5 per a la percepci\u00f3 de dolor, ens permet utilitzar la sensibilitat a est\u00edmuls nociceptius com a indicador d&#8217;\u00e8xit en assajos terap\u00e8utics basats en models de ratol\u00ed&#8221;, comenta Arnau Hervera. Sens dubte, aquesta troballa obre una via molt important per a la detecci\u00f3 i seguiment de tractaments contra el CDD: l&#8217;\u00fas de models de ratol\u00ed.<\/p>\n<p>El treball tamb\u00e9 ha posat de manifest que la defici\u00e8ncia de la prote\u00efna CDKL5 es tradueix, a m\u00e9s, en una innervaci\u00f3 defectuosa de la pell, fet que probablement resulti en el deteriorament de la percepci\u00f3 de dolor, tal com passa en pacients amb CDD. &#8220;Aquest descobriment revela que, tant la ter\u00e0pia g\u00e8nica com altres intervencions enfocades a restaurar la percepci\u00f3 de dolor en pacients amb defici\u00e8ncia de CDKL5, s\u2019haurien de dirigir no solament a el cervell sin\u00f3 tamb\u00e9 als ganglis espinals i, per tant, a el sistema nervi\u00f3s perif\u00e8ric&#8221; conclou Arnau Hervera.<\/p>\n<hr \/>\n<p><strong>Art\u00edcle de refer\u00e8ncia:<\/strong> P. L. Montanara, A. Hervera, L. L. Baltussen, Th. H. Hutson, I. Palmisano, F. De Virgiliis, G. Kong, J. Chadwick, Y. Gao, K. Bartus, Q. A. Majid, N. Gorgoraptis, K. Wong, J. Downs, T. Pizzorusso, S. K. Ultanir, H. Leonard, H. Yu, D. S. Millar, N. Istvan, N. D. Mazarakis, S. Di Giovanni. <a href=\"https:\/\/stm.sciencemag.org\/content\/12\/551\/eaax4846\" target=\"_blank\" rel=\"noopener noreferrer\">Cyclin-dependent\u2013like kinase 5 is required for pain signaling in human sensory neurons and mouse models<\/a>. <em>Science Translational Medicine, 2020.<\/em><\/p>\n<p>M\u00e9s informaci\u00f3 i persona de contacte: alopez@ibecbarcelona.eu<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<h3><img decoding=\"async\" class=\"alignnone size-full wp-image-76114 lazyload\" data-src=\"http:\/\/www.ibecbarcelona.eu\/wp-content\/uploads\/2020\/07\/ArnauHervera_web.jpg\" alt=\"\" width=\"500\" height=\"333\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2020\/07\/ArnauHervera_web.jpg 500w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2020\/07\/ArnauHervera_web-300x200.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2020\/07\/ArnauHervera_web-150x100.jpg 150w\" data-sizes=\"(max-width: 500px) 100vw, 500px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 500px; --smush-placeholder-aspect-ratio: 500\/333;\" \/>Investigadors de l&#8217;Institut de Bioenginyeria de Catalunya (IBEC) participen en un estudi liderat per l&#8217;Imperial College de Londres en el qual es descobreix el paper de la prote\u00efna quinasa dependent de ciclina 5 (CDKL5) en la percepci\u00f3 del dolor.<\/h3>\n<p>La versi\u00f3 defectuosa del gen que produeix aquesta prote\u00efna est\u00e0 darrere de la S\u00edndrome per defici\u00e8ncia CDKL5, una malaltia rara sense cura que, per fi, i gr\u00e0cies als resultats d&#8217;aquest treball, podr\u00e0 comptar amb models animals de ratol\u00ed per a l&#8217;assaig de tractaments efectius.<\/p>\n","protected":false},"author":4,"featured_media":76115,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[96],"tags":[1191],"post_formats":[],"class_list":["post-76119","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-de-recerca","tag-neurobiotecnologia-ca"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Noves vies per identificar i avaluar tractaments per a la malaltia minorit\u00e0ria per defici\u00e8ncia CDKL5 - 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\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Noves vies per identificar i avaluar tractaments per a la malaltia minorit\u00e0ria per defici\u00e8ncia CDKL5 - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"Investigadors de l&#039;Institut de Bioenginyeria de Catalunya (IBEC) participen en un estudi liderat per l&#039;Imperial College de Londres en el qual es descobreix el paper de la prote\u00efna quinasa dependent de ciclina 5 (CDKL5) en la percepci\u00f3 del dolor. La versi\u00f3 defectuosa del gen que produeix aquesta prote\u00efna est\u00e0 darrere de la S\u00edndrome per defici\u00e8ncia CDKL5, una malaltia rara sense cura que, per fi, i gr\u00e0cies als resultats d&#039;aquest treball, podr\u00e0 comptar amb models animals de ratol\u00ed per a l&#039;assaig de tractaments efectius.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ibecbarcelona.eu\/ca\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\/\" \/>\n<meta property=\"og:site_name\" content=\"Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"article:published_time\" content=\"2020-07-09T11:04:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2020-07-13T07:15:31+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2020\/07\/ArnauHervera_web.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"500\" \/>\n\t<meta property=\"og:image:height\" content=\"333\" \/>\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\\\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\\\/\"},\"author\":{\"name\":\"\u00c0ngels L\u00f3pez\",\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/#\\\/schema\\\/person\\\/c212c6b589546130be67986b9290e2b8\"},\"headline\":\"Noves vies per identificar i avaluar tractaments per a la malaltia minorit\u00e0ria per defici\u00e8ncia CDKL5\",\"datePublished\":\"2020-07-09T11:04:00+00:00\",\"dateModified\":\"2020-07-13T07:15:31+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\\\/\"},\"wordCount\":722,\"publisher\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/ibecbarcelona.eu\\\/wp-content\\\/uploads\\\/2020\\\/07\\\/ArnauHervera_web.jpg\",\"keywords\":[\"Neurobiotecnologia\"],\"articleSection\":[\"Not\u00edcies de recerca\"],\"inLanguage\":\"ca\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\\\/\",\"url\":\"https:\\\/\\\/ibecbarcelona.eu\\\/ca\\\/nuevas-vias-para-identificar-y-evaluar-tratamientos-para-la-enfermedad-rara-por-deficiencia-cdkl5\\\/\",\"name\":\"Noves vies per identificar i avaluar tractaments per a la malaltia minorit\u00e0ria per defici\u00e8ncia CDKL5 - 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