{"id":686288,"date":"2026-04-08T13:26:03","date_gmt":"2026-04-08T13:26:03","guid":{"rendered":"https:\/\/microscopemedia.com\/?p=686288"},"modified":"2026-04-08T13:26:03","modified_gmt":"2026-04-08T13:26:03","slug":"cercetatorii-au-descoperit-o-noua-tulburare-de-dezvoltare-neurologica-ascunsa-in-genele-noastre","status":"publish","type":"post","link":"https:\/\/microscopemedia.com\/?p=686288","title":{"rendered":"Cercet\u0103torii au descoperit o nou\u0103 tulburare de dezvoltare neurologic\u0103 ascuns\u0103 \u00een genele noastre"},"content":{"rendered":"<div><img decoding=\"async\" src=\"https:\/\/microscopemedia.com\/wp-content\/uploads\/2026\/04\/cercetatorii-au-descoperit-o-noua-tulburare-de-dezvoltare-neurologica-ascunsa-in-genele-noastre.jpg\" class=\"ff-og-image-inserted\"><\/div>\n<p id=\"p-0\">Tulburarea este cauzat\u0103 de o muta\u021bie a genei RNU2-2. Aceast\u0103 muta\u021bie este recesiv\u0103 (ceea ce \u00eenseamn\u0103 c\u0103 trebuie mo\u0219tenit\u0103 de la ambii p\u0103rin\u021bi pentru a se activa), \u00een timp ce gena \u00een sine este necodant\u0103 (adic\u0103 nu produce proteine, ci ac\u021bioneaz\u0103 mai degrab\u0103 indirect \u00een celule), arat\u0103 <a href=\"https:\/\/www.sciencealert.com\/scientists-have-found-a-new-neurodevelopmental-disorder-hidden-in-our-genes\" target=\"_blank\" rel=\"noopener\">ScienceAlert<\/a>.<\/p>\n<p id=\"p-1\">Aceste dou\u0103 caracteristici \u2013 recesiv\u0103 \u0219i necodificatoare \u2013 ajut\u0103 la explicarea motivului pentru care tulburarea de dezvoltare neurologic\u0103 a r\u0103mas ascuns\u0103 at\u00e2t de mult timp.<\/p>\n<p id=\"p-2\">Acestea nu sunt, de obicei, zonele din ADN-ul nostru pe care oamenii de \u0219tiin\u021b\u0103 le cerceteaz\u0103 pentru a g\u0103si sursa unor afec\u021biuni de s\u0103n\u0103tate precum aceasta.<\/p>\n<p id=\"p-3\">Echipa de cercet\u0103tori care a f\u0103cut aceast\u0103 descoperire a dorit s\u0103 analizeze RNU2-2 mai \u00een detaliu dup\u0103 ce s-a constatat anterior c\u0103 o muta\u021bie dominant\u0103 a genei provoac\u0103 o tulburare cerebral\u0103 sever\u0103 cu epilepsie pronun\u021bat\u0103.<\/p>\n<h2 id=\"chapter-0\">Sindromul ReNU2<\/h2>\n<p id=\"p-4\">Tulburarea, denumit\u0103 sindromul ReNU2, provine dintr-o lips\u0103 a moleculei de ARN U2-2, care este codificat\u0103 de gena RNU2-2.<\/p>\n<p id=\"p-5\">\u00cen timp ce p\u0103rin\u021bii pot fi purt\u0103tori ai unei copii alterate a genei f\u0103r\u0103 a fi afecta\u021bi, atunci c\u00e2nd se combin\u0103 dou\u0103 copii, apare afec\u021biunea.<\/p>\n<p id=\"p-6\">Estim\u00e2nd c\u0103 sindromul ReNU2 ar putea reprezenta aproximativ 10% din cazurile de tulbur\u0103ri de dezvoltare neurologic\u0103 recesive cu o cauz\u0103 genetic\u0103 cunoscut\u0103, cercet\u0103torii spun c\u0103 acesta se poate manifesta prin \u00eent\u00e2rzieri \u00een dezvoltare, capacitate limitat\u0103 de vorbire \u0219i tonus muscular sc\u0103zut.<\/p>\n<p id=\"p-7\">Pot fi evidente dificult\u0103\u021bi de \u00eenv\u0103\u021bare, precum \u0219i tr\u0103s\u0103turi comune cu autismul \u0219i probleme de mers sau alte tipuri de mi\u0219care.<\/p>\n<p id=\"p-8\">Pot ap\u0103rea epilepsie sau probleme respiratorii \u0219i de alimenta\u021bie, dar se pare c\u0103 afecteaz\u0103 fiecare copil \u00een mod diferit.<\/p>\n<h2 id=\"chapter-1\">Cum a fost realizat\u0103 cercetarea<\/h2>\n<p id=\"p-9\">Cercet\u0103torii au identificat sindromul ReNU2 prin analizarea a 110.009 \u00eenregistr\u0103ri genomice individuale din dou\u0103 baze de date de cercetare \u00een domeniul s\u0103n\u0103t\u0103\u021bii, select\u00e2nd 14.805 persoane f\u0103r\u0103 leg\u0103tur\u0103 de rudenie care prezentau o tulburare de dezvoltare neurologic\u0103 \u0219i compar\u00e2ndu-le cu 52.861 de persoane f\u0103r\u0103 leg\u0103tur\u0103 de rudenie care nu prezentau o astfel de tulburare, ca grup de control.<\/p>\n<p id=\"p-10\">Cu toate acestea, r\u0103m\u00e2n multe provoc\u0103ri: va fi dificil s\u0103 se administreze medicamente \u00een creier \u0219i \u00een celulele afectate de sindromul ReNU2 \u0219i, \u00eentruc\u00e2t tulburarea este mo\u0219tenit\u0103 de la na\u0219tere, nu este clar dac\u0103 ar putea fi tratat\u0103 retroactiv.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tulburarea este cauzat\u0103 de o muta\u021bie a genei RNU2-2. Aceast\u0103 muta\u021bie este recesiv\u0103 (ceea ce \u00eenseamn\u0103 c\u0103 trebuie mo\u0219tenit\u0103 de la ambii p\u0103rin\u021bi pentru a se activa), \u00een timp ce &hellip; <a href=\"https:\/\/microscopemedia.com\/?p=686288\" class=\"more-link\">Read More<\/a><\/p>\n","protected":false},"author":1,"featured_media":686289,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"Default","format":"standard","meta":[],"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts\/686288"}],"collection":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=686288"}],"version-history":[{"count":0,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts\/686288\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/media\/686289"}],"wp:attachment":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=686288"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=686288"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=686288"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}