{"id":38635,"date":"2019-10-04T10:34:19","date_gmt":"2019-10-04T14:34:19","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/ppp2r5d\/38635-2\/"},"modified":"2024-01-29T09:58:22","modified_gmt":"2024-01-29T14:58:22","slug":"38635-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/ppp2r5d\/38635-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Dysfonctionnement de la prot\u00e9ine phosphatase 2A li\u00e9e \u00e0 B56\u03b4 identifi\u00e9 chez des patients atteints de d\u00e9ficience intellectuelle<\/strong><\/h2>\n<p>Article de recherche original de G. Houge <em>et al. <\/em>(2015)<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26168268\">ici<\/a>.<\/p>\n<p>Cet article examine comment les modifications du g\u00e8ne <em>PPP2R5D <\/em>peuvent entra\u00eener des caract\u00e9ristiques de la d\u00e9ficience intellectuelle. L&#8217;\u00e9quipe charg\u00e9e de l&#8217;\u00e9tude a identifi\u00e9 16 personnes pr\u00e9sentant un probl\u00e8me de cr\u00e9ation et de traitement de la prot\u00e9ine PP2A, qui est fabriqu\u00e9e par la prot\u00e9ine PPP2R5D<em> <\/em>g\u00e8ne. Dans ce groupe de 16 personnes identifi\u00e9es, on a constat\u00e9 que 11 d&#8217;entre elles pr\u00e9sentaient des changements dans le g\u00e8ne PPP2R5D<em> <\/em>et 5 pr\u00e9sentaient une modification d&#8217;un g\u00e8ne apparent\u00e9, PPP2R1A<em>.<\/em><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-6377\" src=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063301\/ppp2r5d_2-300x297.png\" alt=\"\" width=\"859\" height=\"850\" srcset=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063301\/ppp2r5d_2-300x297.png 300w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063301\/ppp2r5d_2.png 386w\" sizes=\"(max-width: 859px) 100vw, 859px\" \/><\/p>\n<p>Sur les onze cas de PPP2R5D identifi\u00e9s, il a \u00e9t\u00e9 constat\u00e9 que le type ou la localisation de la modification du g\u00e8ne PPP2R5D \u00e9tait li\u00e9 \u00e0 la s\u00e9v\u00e9rit\u00e9 de la d\u00e9ficience intellectuelle (DI). Huit des onze personnes pr\u00e9sentant des modifications g\u00e9n\u00e9tiques de <em>PPP2R5D<\/em> avaient soit la modification E198K, soit la modification E200K (E198K et E200K d\u00e9signent l&#8217;emplacement et les modifications de la prot\u00e9ine caus\u00e9es par la modification). Les personnes porteuses de la mutation E198K pr\u00e9sentaient une d\u00e9ficience intellectuelle plus s\u00e9v\u00e8re. Cependant, on a constat\u00e9 que les personnes atteintes de la modification E200K pr\u00e9sentaient une l\u00e9g\u00e8re d\u00e9ficience intellectuelle.<\/p>\n<p>Le tableau suivant pr\u00e9sente les caract\u00e9ristiques cliniques communes des personnes pr\u00e9sentant des modifications g\u00e9n\u00e9tiques de PPP2R5D :<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-6378\" src=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063410\/ppp2r5d_3-300x228.png\" alt=\"\" width=\"1028\" height=\"781\" srcset=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063410\/ppp2r5d_3-300x228.png 300w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063410\/ppp2r5d_3.png 792w\" sizes=\"(max-width: 1028px) 100vw, 1028px\" \/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Dysfonctionnement de la prot\u00e9ine phosphatase 2A li\u00e9e \u00e0 B56\u03b4 identifi\u00e9 chez des patients atteints de d\u00e9ficience intellectuelle Article de recherche original de G. Houge et al. (2015) Lire le r\u00e9sum\u00e9 ici. Cet article examine comment les modifications du g\u00e8ne PPP2R5D peuvent entra\u00eener des caract\u00e9ristiques de la d\u00e9ficience intellectuelle. L&#8217;\u00e9quipe charg\u00e9e de l&#8217;\u00e9tude a identifi\u00e9 16 [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":38156,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38635"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38635"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38635\/revisions"}],"predecessor-version":[{"id":38644,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38635\/revisions\/38644"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38156"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38635"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}