{"id":120669,"date":"2015-04-16T10:24:59","date_gmt":"2015-04-16T10:24:59","guid":{"rendered":"https:\/\/bm.dev.synology.me\/?p=120669"},"modified":"2015-04-16T10:24:59","modified_gmt":"2015-04-16T10:24:59","slug":"studiu-originea-autismului-la-copii-s-ar-putea-afla-in-sperma-tatilor-acestora","status":"publish","type":"post","link":"https:\/\/bm.dev.synology.me\/?p=120669","title":{"rendered":"STUDIU: Originea autismului la copii s-ar putea afla \u00een sperma ta\u0163ilor acestora"},"content":{"rendered":"<p>\nDe\u015fi mai multe studii realizate \u00een trecut au identificat anumite gene care au fost asociate cu declan\u015farea acestei boli, cele mai multe cazuri de autism au r\u0103mas pentru moment neexplicate.<\/p>\n<p>\n<strong>Cu toate acestea, comunitatea medical\u0103 este de p\u0103rere c\u0103 autismul este de obicei o afec\u0163iune mo\u015ftenit\u0103, \u00eentruc\u00e2t aceast\u0103 boal\u0103 apare de obicei \u00een familiile \u00een care exist\u0103 deja astfel de cazuri.<\/strong><\/p>\n<p>\n\u00cen cadrul noului studiu, cercet\u0103torii de la Johns Hopkins University din ora\u015ful american Baltimore au \u00eencercat s\u0103 identifice cauzele posibile ale bolii, nu \u00een gene, ci \u00een factorii epigenetici care regularizeaz\u0103 activitatea genelor.<\/p>\n<p>\n<strong>&#8220;Am vrut s\u0103 afl\u0103m ce se \u00eent\u00e2mpl\u0103 \u00eenainte ca cineva s\u0103 sufere de autism&#8221;<\/strong>, a spus Andrew Feinberg, coordonatorul studiului, citat de <a href=\"http:\/\/dailymail.co.uk\" target=\"_blank\">dailymail.co.uk<\/a>.<\/p>\n<p>\n&#8220;Dac\u0103 modific\u0103rile epigenetice sunt transmise de la tat\u0103 la copil, ar trebui s\u0103 putem s\u0103 le detect\u0103m \u00een sperm\u0103&#8221;, a ad\u0103ugat profesorul Daniele Fallin, un alt cercet\u0103tor implicat \u00een acel studiu.<\/p>\n<p>\nStudiul a analizat factorii epigenetici din ADN-ul extras din sperma unui num\u0103r de 44 de b\u0103rba\u0163i.<\/p>\n<p>\nVoluntarii f\u0103ceau parte dintr-un studiu mai vast care \u00eencearc\u0103 s\u0103 determine factorii ce influen\u0163eaz\u0103 evolu\u0163ia copiilor \u00een stadii timpurii, \u00eenainte ca ace\u015ftia s\u0103 fie diagnostica\u0163i cu autism.<\/p>\n<p>\nStudiul a inclus \u015fi mame \u00eens\u0103rcinate care aveau deja cel pu\u0163in un copil diagnosticat cu autism \u015fi a colectat informa\u0163ii \u015fi probe biologice de la acele femei, de la ta\u0163ii bebelu\u015filor lor \u015fi de la copiii \u00een\u015fi\u015fi, dup\u0103 na\u015ftere.<\/p>\n<p>\nLa \u00eenceputul sarcinii, probe de sperm\u0103 au fost recoltate de la ta\u0163ii inclu\u015fi \u00een acest studiu.<\/p>\n<p>\nLa un an dup\u0103 na\u015fterea bebelu\u015filor, ace\u015ftia au fost analiza\u0163i \u00een vederea detect\u0103rii unor semne timpurii de autism cu ajutorul metodei Autism Observation Scale for Infants (AOSI).<\/p>\n<p>\nCercet\u0103torii americani au extras apoi ADN din fiecare prob\u0103 de sperm\u0103 \u015fi au c\u0103utat factorii epigenetici \u00een 45.000 de pozi\u0163ii diferite din structura genomului acelor voluntari.<\/p>\n<p>\nApoi, ei au comparat probabilitatea ca un factor epigenetic s\u0103 se afle \u00eentr-o anumit\u0103 pozi\u0163ie din structura genomului cu scorurile AOSI ob\u0163inute de fiecare copil.<\/p>\n<p>\nSavan\u0163ii au descoperit astfel 193 de locuri diferite pentru care prezen\u0163a sau absen\u0163a factorilor epigenetici era asociat\u0103 din punct de vedere statistic cu scorurile AOSI.<\/p>\n<p>\nAnaliz\u00e2nd genele aflate \u00een apropierea acelor locuri, cercet\u0103torii au descoperit c\u0103 multe dintre ele erau \u00eenrudite cu genele implicate \u00een procesele de dezvoltare, \u00een special cu procesul de dezvoltare neurologic\u0103.<\/p>\n<p>\nPatru dintre cele 10 pozi\u0163ii genomiale care prezint\u0103 cea mai puternic\u0103 asociere cu scorurile AOSI se aflau \u00een apropierea genelor asociate cu sindromul Prader-Willi, o maladie genetic\u0103 ale c\u0103rei simptome comportamentale exist\u0103 \u015fi \u00een cazul autismului.<\/p>\n<p>\nMai mul\u0163i dintre factorii epigenetici deficitari au fost de asemenea descoperi\u0163i \u00een creierele indivizilor diagnostica\u0163i cu autism.<\/p>\n<p>\n\u00cen prezent, pe pia\u0163\u0103 nu este disponibil niciun test genetic sau epigenetic care s\u0103 fie capabil s\u0103 cuantifice riscul de autism.<\/p>\n<p>\nStudiul a fost publicat \u00een revista International Journal of Epidemiology.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Originea autismului la copii s-ar putea afla \u00een sperma ta\u0163ilor acestora, potrivit unui studiu care a descoperit o anumit\u0103 asociere \u00eentre ADN-ul din lichidul seminal \u015fi un tipar distinct de factori care ar putea s\u0103 declan\u015feze aceast\u0103 maladie, informeaz\u0103 dailymail.co.uk.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[510],"tags":[33251,22790],"class_list":["post-120669","post","type-post","status-publish","format-standard","hentry","category-actualitate","tag-autism","tag-sperma"],"_links":{"self":[{"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=\/wp\/v2\/posts\/120669","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=120669"}],"version-history":[{"count":0,"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=\/wp\/v2\/posts\/120669\/revisions"}],"wp:attachment":[{"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=120669"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=120669"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bm.dev.synology.me\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=120669"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}