{"id":349387,"date":"2020-01-26T19:47:16","date_gmt":"2020-01-26T18:47:16","guid":{"rendered":"https:\/\/hashtag.al\/?p=349387"},"modified":"2020-01-26T19:41:27","modified_gmt":"2020-01-26T18:41:27","slug":"studimi-me-i-madh-ndonjehere-gjen-102-gjenet-pergjegjese-per-autizmin","status":"publish","type":"post","link":"https:\/\/www.hashtag.al\/index.php\/2020\/01\/26\/studimi-me-i-madh-ndonjehere-gjen-102-gjenet-pergjegjese-per-autizmin\/","title":{"rendered":"Studimi m\u00eb i madh ndonj\u00ebher\u00eb gjen 102 gjenet p\u00ebrgjegj\u00ebse p\u00ebr autizmin","gt_translate_keys":[{"key":"rendered","format":"text"}]},"content":{"rendered":"

\"\"<\/p>\n

Studimi m\u00eb i madh i sekuencave gjenetike t\u00eb \u00e7rregullimit t\u00eb spektrit t\u00eb autizmit (ASD) i kryer ndonj\u00ebher\u00eb ka gjetur 102 gjene t\u00eb lidhura me autizmin, nj\u00eb hap i madh drejt nj\u00eb kurimi eventual, i cili mund t\u00eb p\u00ebrfshij\u00eb manipulim gjenetik.<\/span><\/p>\n

Shumica e k\u00ebtyre 102 gjeneve jan\u00eb shprehur n\u00eb tru dhe ndikojn\u00eb n\u00eb sinapset ose rregullojn\u00eb gjenet e tjera. Kjo do t\u00eb thot\u00eb se ata kan\u00eb role t\u00eb r\u00ebnd\u00ebsishme n\u00eb nd\u00ebrrimin dhe ndalimin e gjeneve t\u00eb tjera.<\/span><\/p>\n

P\u00ebr m\u00eb tep\u00ebr, 49 prej k\u00ebtyre gjeneve jan\u00eb t\u00eb lidhura edhe me \u00e7rregullime t\u00eb tjera zhvillimore, duke n\u00ebnvizuar faktin se neurobiologjia e shum\u00eb kushteve t\u00eb tilla ka t\u00eb ngjar\u00eb t\u00eb mbivendoset.<\/span><\/p>\n

Hulumtimi i botuar t\u00eb enjten n\u00eb \u2018Cell\u2019, nj\u00eb revist\u00eb shkencore, tregoi zbulimin, i cili p\u00ebrfaq\u00ebson nj\u00eb hap t\u00eb r\u00ebnd\u00ebsish\u00ebm p\u00ebrpara p\u00ebr t\u00eb kuptuar neurobiologjin\u00eb e autizmit. Ajo p\u00ebrfaq\u00ebson nj\u00eb rritje prej 57% t\u00eb numrit t\u00eb gjeneve q\u00eb dihet se shoq\u00ebrohen me ASD q\u00eb nga viti 2015.<\/span><\/p>\n

Ky studim p\u00ebrdori sekuencat n\u00eb shkall\u00eb t\u00eb gjer\u00eb ekzome. N\u00eb k\u00ebt\u00eb teknik\u00eb, n\u00eb vend q\u00eb t\u00eb mblidhen t\u00eb gjitha sekuencat e ADN-s\u00eb t\u00eb nj\u00eb personi, \u00ebsht\u00eb analizuar vet\u00ebm pjesa relativisht e vog\u00ebl q\u00eb kodon p\u00ebr ARN-n\u00eb dhe proteinat. N\u00eb k\u00ebt\u00eb m\u00ebnyr\u00eb, burimet mund t\u00eb p\u00ebrdoren n\u00eb m\u00ebnyr\u00eb m\u00eb efikase dhe t\u00eb gjitha rajonet m\u00eb t\u00eb r\u00ebnd\u00ebsishme t\u00eb ADN-s\u00eb me dhjet\u00ebra mij\u00ebra pjes\u00ebmarr\u00ebs mund t\u00eb krahasohen.<\/span><\/p>\n

Ky studim hodhi posht\u00eb disa zbulime t\u00eb tjera t\u00eb b\u00ebra m\u00eb par\u00eb. Autor\u00ebt p\u00ebrdor\u00ebn nj\u00eb sistem kompjuterik t\u00eb p\u00ebrmir\u00ebsuar p\u00ebr t’i lejuar ata t\u00eb b\u00ebjn\u00eb dallimin midis mutacioneve t\u00eb trash\u00ebguara nga nj\u00eb prind dhe mutacioneve t\u00eb reja q\u00eb lindin. <\/span><\/p>\n

Ai gjithashtu i lejoi ata t\u00eb shk\u00ebpusin disa nga gjenet q\u00eb lidhen me rrezikun e autizmit nga ato t\u00eb lidhura me aft\u00ebsi t\u00eb kufizuara zhvillimore dhe intelektuale. <\/span><\/p>\n

Kjo do t\u00eb ndihmoj\u00eb n\u00eb hedhjen e drit\u00ebs n\u00eb deficitet thelb\u00ebsore t\u00eb ASD. K\u00ebto trajtime mund t\u00eb synojn\u00eb rrug\u00ebn e s\u00ebmundjes s\u00eb nj\u00eb gjeni ose gjenesh t\u00eb ve\u00e7ant\u00eb, p\u00ebr shembull duke shp\u00ebrndar\u00eb proteina thelb\u00ebsore n\u00eb trurin e njer\u00ebzve autik\u00eb q\u00eb u mungojn\u00eb.<\/span><\/p>\n","protected":false,"gt_translate_keys":[{"key":"rendered","format":"html"}]},"excerpt":{"rendered":"

Studimi m\u00eb i madh i sekuencave gjenetike t\u00eb \u00e7rregullimit t\u00eb spektrit t\u00eb autizmit (ASD) i kryer ndonj\u00ebher\u00eb ka gjetur 102 gjene t\u00eb lidhura me autizmin, nj\u00eb hap i madh drejt nj\u00eb kurimi eventual, i cili mund t\u00eb p\u00ebrfshij\u00eb manipulim gjenetik. Shumica e k\u00ebtyre 102 gjeneve jan\u00eb shprehur n\u00eb tru dhe ndikojn\u00eb n\u00eb sinapset ose rregullojn\u00eb […]<\/p>\n","protected":false,"gt_translate_keys":[{"key":"rendered","format":"html"}]},"author":51,"featured_media":349388,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[53],"tags":[],"class_list":["post-349387","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-fast-foodi"],"gt_translate_keys":[{"key":"link","format":"url"}],"_links":{"self":[{"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/posts\/349387","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/users\/51"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/comments?post=349387"}],"version-history":[{"count":0,"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/posts\/349387\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/media\/349388"}],"wp:attachment":[{"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/media?parent=349387"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/categories?post=349387"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hashtag.al\/index.php\/wp-json\/wp\/v2\/tags?post=349387"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}