{"id":3980,"date":"2026-01-29T00:48:06","date_gmt":"2026-01-29T00:48:06","guid":{"rendered":"https:\/\/bihavadis.com\/?p=3980"},"modified":"2026-01-29T00:48:06","modified_gmt":"2026-01-29T00:48:06","slug":"down-sendromuna-anne-karninda-mudahale","status":"publish","type":"post","link":"https:\/\/bihavadis.com\/index.php\/2026\/01\/29\/down-sendromuna-anne-karninda-mudahale\/","title":{"rendered":"Down sendromuna anne karn\u0131nda m\u00fcdahale"},"content":{"rendered":"<p>Ara\u015ft\u0131rmac\u0131lar, anne rahmindeki bebekte s\u00f6z konusu sendroma neden olan geni tedavi etmenin bir yolunu buldu.<\/p>\n<p>Sperm yahut yumurtada bulunan tek bir genin d\u00f6n\u00fc\u015fmesi sonucu ortaya \u00e7\u0131kan Down sendromuna sahip hastalar, ki\u015fiye g\u00f6re de\u011fi\u015fen \u00f6\u011frenme bozukluklar\u0131ndan mustarip oluyor.<\/p>\n<p><img decoding=\"async\" src=\"https:\/\/bihavadis.com\/wp-content\/uploads\/2026\/01\/down-sendromuna-anne-karninda-mudahale-0-Nfqx4DNc.jpg\"\/><\/p>\n<p>Sa\u011fl\u0131kl\u0131 bebekler 46 kromozomla d\u00fcnyaya gelirlerken, Down sendromlu bebekler geli\u015fimlerini olumsuz etkileyen ekstra bir 21. kromozomla do\u011fuyor.<br \/>S\u00f6z konusu 21. kromozom \u00e7ifti, OLIG2 geni olarak da biliniyor.<br \/>Laboratuvar ortam\u0131nda geli\u015ftirilen bir beyin modelinde uzmanlar, Down sendromlu bir hastadan ald\u0131klar\u0131 h\u00fccreleri kullanarak yapt\u0131klar\u0131 deney sonucunda OLIG2 genini inhibe eden ila\u00e7lar\u0131n ayn\u0131 zamanda zararl\u0131 n\u00f6ronlar\u0131n geli\u015fmesini de \u00f6nledi\u011fi g\u00f6r\u00fcld\u00fc.<\/p>\n<p>Ayn\u0131 y\u00f6ntemle fare beyni \u00fczerinde \u00e7al\u0131\u015f\u0131ld\u0131\u011f\u0131nda, s\u00f6z konusu n\u00f6ronlar\u0131n a\u015f\u0131r\u0131 \u00fcretiminin zihin bask\u0131lanmas\u0131yla do\u011fru orant\u0131l\u0131 oldu\u011fu da ke\u015ffedildi.<\/p>\n<div>\n<div>  <\/div>\n<\/div>\n<p><img decoding=\"async\" src=\"https:\/\/bihavadis.com\/wp-content\/uploads\/2026\/01\/down-sendromuna-anne-karninda-mudahale-1-8Py1LGOA.jpg\"\/><\/p>\n<p><b>&#8216;EL\u0130M\u0130ZDEK\u0130 EN \u0130Y\u0130 OLANAK OLIG2 GEN\u0130&#8217;<\/b><\/p>\n<p>ABD\u2019deki Rutgers \u00dcniversitesi\u2019nden Yard\u0131mc\u0131 Do\u00e7ent Doktor Peng Jiang, \u201cDown sendromu, olduk\u00e7a yayg\u0131n g\u00f6ren bir sinirgeli\u015fimsel bozukluk. Down sendromu hastalar\u0131ndaki zihinsel bozukluklar uyar\u0131c\u0131 ve bask\u0131lay\u0131c\u0131 n\u00f6rotransmisyondaki dengesizliklerden de kaynaklanabilir. S\u00f6z konusu dengesizliklerin alt\u0131nda yatan mekanizmay\u0131 anlamak, bizlere durumu iyile\u015ftirme ad\u0131na f\u0131rsat tan\u0131yabilir. Yap\u0131lan ara\u015ft\u0131rmalar g\u00f6steriyor ki, embriyonun ola\u011fand\u0131\u015f\u0131 beyin geli\u015fimini tersine \u00e7evirmek ve sendromu do\u011fum \u00f6ncesi d\u00f6nemde tedavi etmek ad\u0131na elimizdeki en iyi olanak OLIG2 geni\u201d a\u00e7\u0131klamalar\u0131nda bulundu.<\/p>\n<p><img decoding=\"async\" src=\"https:\/\/bihavadis.com\/wp-content\/uploads\/2026\/01\/down-sendromuna-anne-karninda-mudahale-2-Z6zMphWW.jpg\"\/><\/p>\n<p>Down sendromu taramas\u0131 t\u00fcm hamile kad\u0131nlara \u00f6neriliyor olsa da, bu anlamdaki riskler annenin ya\u015f\u0131yla do\u011fru orant\u0131l\u0131 olarak art\u0131\u015f g\u00f6steriyor.<br \/>Ulusal Sa\u011fl\u0131k Sistemi\u2019nin (NHS) a\u00e7\u0131klad\u0131\u011f\u0131 verilere g\u00f6re yirmili ya\u015flar\u0131ndaki bir kad\u0131n\u0131n Down sendromlu bebek d\u00fcnyaya getirme olas\u0131l\u0131\u011f\u0131 1500\u2019de bir iken, k\u0131rkl\u0131 ya\u015flar\u0131ndaki kad\u0131nlarda bu oran 100\u2019de bire kadar y\u00fckseliyor.<br \/>G\u00fcncel geli\u015fmelerden faydalanamayan \u00e7ocuklarda dikkat eksikli\u011fi, hiperaktivite bozuklu\u011fu ve otizm gibi \u00e7ok daha \u00f6zenli bak\u0131m gerektiren rahats\u0131zl\u0131klar g\u00f6zlemlenebiliyor.<\/p>\n<p>Kalp rahats\u0131zl\u0131klar\u0131, g\u00f6rme ve i\u015fitme bozukluklar\u0131, tiroit bezi rahats\u0131zl\u0131klar\u0131 ve zat\u00fcrre gibi enfeksiyonlar da Down sendromlu hastalar aras\u0131nda olduk\u00e7a yayg\u0131n.<br \/>Genetik olarak yeniden kodlanan h\u00fccreler, insan kaynakl\u0131 pluripotent k\u00f6k h\u00fccreleri (hiPSCs) olarak adland\u0131r\u0131l\u0131yor. S\u00f6z konusu h\u00fccreler erken ya\u015flarda ve eri\u015fkinlik d\u00f6neminde kullan\u0131lmak \u00fczere beyin h\u00fccreleri gibi bir\u00e7ok h\u00fccre tipine d\u00f6n\u00fc\u015ft\u00fcr\u00fclebilir.<\/p>\n<p>Yeni tedavi y\u00f6ntemi, embriyonun ola\u011fand\u0131\u015f\u0131 beyin geli\u015fimini tersine \u00e7evirmeyi ve do\u011fumdan evvel bebe\u011fin bilincinin geli\u015fmesine olanak tan\u0131may\u0131 vaat ediyor. \u00c7al\u0131\u015fmalarda, Down sendromlu hastalar\u0131n beyin i\u00e7erisinde d\u00f6n\u00fc\u015ft\u00fcr\u00fclmesi m\u00fcmk\u00fcn olan k\u00f6k h\u00fccreleri kullan\u0131l\u0131yor.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Bilim insanlar\u0131, Down sendromuna neden olan genin anne karn\u0131nda tespit edilerek tedavi edilebilmesinin yak\u0131n zamanda m\u00fcmk\u00fcn olaca\u011f\u0131n\u0131 duyurdu.<\/p>\n","protected":false},"author":1,"featured_media":3981,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[686,605,691],"class_list":["post-3980","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-saglik","tag-beyin","tag-hucre","tag-soz"],"_links":{"self":[{"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/posts\/3980","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/comments?post=3980"}],"version-history":[{"count":1,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/posts\/3980\/revisions"}],"predecessor-version":[{"id":3985,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/posts\/3980\/revisions\/3985"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/media\/3981"}],"wp:attachment":[{"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/media?parent=3980"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/categories?post=3980"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bihavadis.com\/index.php\/wp-json\/wp\/v2\/tags?post=3980"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}