{"id":21554,"date":"2022-06-10T10:29:28","date_gmt":"2022-06-10T08:29:28","guid":{"rendered":"https:\/\/idibell.cat\/?p=21554"},"modified":"2025-01-09T08:24:19","modified_gmt":"2025-01-09T07:24:19","slug":"el-genotipat-a-gran-escala-permet-identificar-la-causa-molecular-de-dos-casos-de-globozoospermia-familiar","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2022\/06\/el-genotipat-a-gran-escala-permet-identificar-la-causa-molecular-de-dos-casos-de-globozoospermia-familiar\/","title":{"rendered":"El genotipat a gran escala permet identificar la causa molecular de dos casos de globozoosp\u00e8rmia familiar"},"content":{"rendered":"<p>Un nombre significatiu de casos d&#8217;infertilitat en homes s\u00f3n causats per defectes morfol\u00f2gics dels espermatozoides que acaben afectant la capacitat de fecundaci\u00f3. Una d&#8217;aquestes afeccions \u00e9s la <strong>globozoosp\u00e8rmia<\/strong>, caracteritzada per la forma excessivament arrodonida dels caps dels espermatozoides a causa de l&#8217;abs\u00e8ncia d&#8217;acrosoma, i que representa un 0,1% de tots els casos d&#8217;infertilitat masculina. Tot i que la reproducci\u00f3 assistida permet a moltes parelles amb problemes de fertilitat poder concebre, \u00e9s important con\u00e8ixer els factors gen\u00e8tics responsables per millorar el resultat del tractament de reproducci\u00f3 i determinar el risc de la futura descend\u00e8ncia.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-21557 size-full\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge2.jpg\" alt=\"\" width=\"1103\" height=\"287\" srcset=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge2.jpg 1103w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge2-300x78.jpg 300w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge2-1024x266.jpg 1024w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge2-768x200.jpg 768w\" sizes=\"auto, (max-width: 1103px) 100vw, 1103px\" \/><\/p>\n<p>Ara un grup d&#8217;investigadors de la <strong>Fundaci\u00f3 Puigvert<\/strong> (Dr. Llu\u00eds Bassas i Dra. Olga L\u00f3pez-Rodrigo) i la <strong>Universitat de Granada<\/strong> (Dra. Lara Bossini-Castillo i Dr. David Carmona), liderats per l&#8217;equip de l&#8217;IDIBELL de la <strong>Dra. Sara Larriba<\/strong> mostren la utilitat dels estudis d&#8217;associaci\u00f3 del genoma complet (GWAS) a partir de dades de genotipat a gran escala com una estrat\u00e8gia beneficiosa per identificar la causa molecular de la globozoosp\u00e8rmia en dos germans d&#8217;una fam\u00edlia no consangu\u00ednia.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-21556 size-full\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge3.jpg\" alt=\"\" width=\"402\" height=\"719\" srcset=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge3.jpg 402w, https:\/\/idibell.cat\/wp-content\/uploads\/2022\/06\/NO-S-Larriba_GWAS-Imatge3-168x300.jpg 168w\" sizes=\"auto, (max-width: 402px) 100vw, 402px\" \/>Aquest estudi gen\u00e8tic ha perm\u00e8s identificar el primer cas, en pacients globozoosp\u00e8rmics <strong>d&#8217;heterozigosi composta<\/strong> per a dues mutacions diferents del gen <em>DPY19L2<\/em>. \u00c9s a dir, que aquests pacients presenten els dos al\u00b7lels del gen alterats per mutacions diferents. Aix\u00f2 suggereix que mutacions a <em>DPY19L2<\/em> podrien ser les responsables dels casos de globozoosp\u00e8rmia en fam\u00edlies no consangu\u00ednies dels quals encara no se&#8217;n coneix la causa molecular.<\/p>\n<p>La <strong>Dra. Sara Larriba<\/strong>, investigadora principal del grup de recerca en gen\u00e8tica molecular humana de l&#8217;IDIBELL i l\u00edder del treball conclou: &#8220;<em>La t\u00e8cnica de genotipat-GWAS podria resultar una alternativa molt m\u00e9s rendible en comparaci\u00f3 amb la seq\u00fcenciaci\u00f3 completa del genoma, sobretot per a aquelles variants patog\u00e8niques que la seq\u00fcenciaci\u00f3 completa no pot detectar com les relacionades amb les duplicacions segment\u00e0ries o els pseudogens, com succeeix al gen DPY19L2<\/em>&#8220;. Aquesta estrat\u00e8gia pot ser aplicada en contextos similars a l&#8217;estudi gen\u00e8tic de fam\u00edlies afectades amb altres malalties cong\u00e8nites.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un estudi gen\u00e8tic d&#8217;associaci\u00f3 de genoma complet en una fam\u00edlia amb dos barons amb infertilitat per globozoosp\u00e8rmia permet identificar el primer cas d\u2019heterozigosi composta per a dues mutacions diferents al gen DPY19L2.<\/p>\n","protected":false},"author":8,"featured_media":21555,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[396,334,464,378],"tags":[],"class_list":["post-21554","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetica-molecular-humana","category-medicina-translacional","category-p-de-gens-malaltia-i-terapia","category-processos-immune-inflamatoris-i-terapia-genica"],"publishpress_future_action":{"enabled":false,"date":"2025-01-29 04:55:37","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/21554","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=21554"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/21554\/revisions"}],"predecessor-version":[{"id":21559,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/21554\/revisions\/21559"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/21555"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=21554"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=21554"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=21554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}