Biruni \u00dcniversitesi \u00f6nc\u00fcl\u00fc\u011f\u00fcnde yap\u0131lan ara\u015ft\u0131rmada dikkat \u00e7ekici bir genetik ke\u015fif yap\u0131ld\u0131\u011f\u0131 bildirildi. \u00c7al\u0131\u015fman\u0131n yazarlar\u0131 aras\u0131nda Biruni \u00dcniversitesi’nden Do\u00e7. Dr. Elif Sibel Aslan, Sajjad Eslamkhah, Dr. \u00d6\u011fr. \u00dcyesi Nermin Ak\u00e7al\u0131, Dr. \u00d6\u011fr. \u00dcyesi C\u00fcneyd Yava\u015f, Do\u00e7. Dr. L\u00fctfiye Karc\u0131o\u011flu Batur, Dr. Esma Sengen\u00e7 ve \u00fcniversitenin Rekt\u00f6r\u00fc Prof. Dr. Adnan Y\u00fcksel yer ald\u0131.<\/p>\n
Ara\u015ft\u0131rmada incelenen olgunun, Prof. Dr. Adnan Y\u00fcksel’in uzun s\u00fcredir klinik takibinde olan bir hasta oldu\u011fu belirtildi. Klinik g\u00f6zlemler ile ileri genetik analizlerin birlikte de\u011ferlendirilmesi sayesinde, hastal\u0131\u011f\u0131n molek\u00fcler temeli ayr\u0131nt\u0131l\u0131 bi\u00e7imde ortaya kondu\u011f\u0131 kaydedildi.<\/p>\n
‘NAD\u0130R HASTALIKLARIN AYDINLATILMASI MULT\u0130D\u0130S\u0130PL\u0130NER YAKLA\u015eIM GEREKT\u0130R\u0130YOR’<\/strong><\/p>\n \u00c7al\u0131\u015fmaya ili\u015fkin de\u011ferlendirmede bulunan Prof. Dr. Adnan Y\u00fcksel, klinik takip ile genetik ara\u015ft\u0131rmalar\u0131n birlikte y\u00fcr\u00fct\u00fclmesinin \u00f6nemine dikkat \u00e7ekerek \u015funlar\u0131 s\u00f6yledi:<\/p>\n \u201cMarinesco-Sj\u00f6gren Sendromu gibi nadir hastal\u0131klarda do\u011fru tan\u0131ya ula\u015fmak, ancak klinik g\u00f6zlemler ile ileri genetik analizlerin bir arada de\u011ferlendirilmesiyle m\u00fcmk\u00fcn olabiliyor. Bu \u00e7al\u0131\u015fmada, uzun s\u00fcredir takibini yapt\u0131\u011f\u0131m\u0131z hastam\u0131z\u0131n klinik bulgular\u0131n\u0131n genetik d\u00fczeyde daha \u00e7ok a\u00e7\u0131klanabilmi\u015f olmas\u0131 hem hasta y\u00f6netimi hem de bilimsel bilgi birikimi a\u00e7\u0131s\u0131ndan son derece k\u0131ymetlidir.” Prof. Dr. Y\u00fcksel, elde edilen bulgular\u0131n yaln\u0131zca tek bir olguya de\u011fil, benzer hastal\u0131klarla m\u00fccadele eden di\u011fer bireyler i\u00e7in de yol g\u00f6sterici olabilece\u011fini dile getirdi.<\/p>\n ‘DAHA \u00d6NCE TANIMLANMAMI\u015e B\u0130R GENET\u0130K DE\u011e\u0130\u015e\u0130KL\u0130K SAPTANDI’<\/strong><\/p>\n Prof. Dr. Adnan Y\u00fcksel, hastada SIL1 geninde ‘c.453+1G>T’ olarak adland\u0131r\u0131lan ve daha \u00f6nce hi\u00e7bir genetik veri taban\u0131nda rapor edilmemi\u015f yeni bir mutasyon tespit edildi\u011fini belirterek \u015fu bilgileri payla\u015ft\u0131:<\/p>\n \u201cYap\u0131lan t\u00fcm protein kodlayan gen analizleri ve bilgisayar destekli genetik incelemeler, bu de\u011fi\u015fikli\u011fin proteinin normal yap\u0131s\u0131n\u0131 bozdu\u011funu ve h\u00fccre i\u00e7inde protein katlanma s\u00fcrecini ciddi \u015fekilde etkiledi\u011fini g\u00f6sterdi.”<\/p>\n Bilgisayar destekli yap\u0131sal modelleme \u00e7al\u0131\u015fmalar\u0131n\u0131n, s\u00f6z konusu mutasyonun SIL1 proteininin k\u0131salmas\u0131na ve i\u015flev kayb\u0131na yol a\u00e7t\u0131\u011f\u0131n\u0131 ortaya koydu\u011funu ifade eden Prof. Dr. Y\u00fcksel, bu durumun h\u00fccre i\u00e7inde hatal\u0131 protein birikimine neden olarak hastal\u0131\u011f\u0131n klinik belirtilerini tetikledi\u011fini s\u00f6yledi.<\/p>\n ‘KL\u0130N\u0130K BULGULAR GENET\u0130K SONU\u00c7LARLA \u00d6RT\u00dc\u015e\u00dcYOR’<\/strong><\/p>\n Biruni \u00dcniversitesi M\u00fchendislik ve Do\u011fa Bilimleri Fak\u00fcltesi Molek\u00fcler Biyoloji ve Genetik B\u00f6l\u00fcm\u00fc \u00d6\u011fretim \u00dcyesi Do\u00e7. Dr. Elif Sibel Aslan da ara\u015ft\u0131rma kapsam\u0131nda de\u011ferlendirilen hastada; do\u011fu\u015ftan katarakt, denge ve y\u00fcr\u00fcme bozuklu\u011fu, kas zay\u0131fl\u0131\u011f\u0131 ve iskelet deformiteleri gibi Marinesco-Sj\u00f6gren Sendromu’na \u00f6zg\u00fc tipik klinik bulgular\u0131n saptand\u0131\u011f\u0131n\u0131 belirtti. Tan\u0131mlanan yeni genetik varyant\u0131n, hastan\u0131n klinik tablosunu g\u00fc\u00e7l\u00fc bi\u00e7imde a\u00e7\u0131klad\u0131\u011f\u0131n\u0131 ifade etti.<\/p>\n ‘HEDEFE Y\u00d6NEL\u0130K TEDAV\u0130LERE ZEM\u0130N HAZIRLAMASI \u00d6NG\u00d6R\u00dcL\u00dcYOR’<\/strong><\/p>\n Marinesco-Sj\u00f6gren Sendromu’nun d\u00fcnya genelinde son derece nadir g\u00f6r\u00fcld\u00fc\u011f\u00fcne dikkat \u00e7eken Do\u00e7. Dr. Aslan, vakalar\u0131n \u00f6nemli bir b\u00f6l\u00fcm\u00fcnde genetik nedenlerin net olarak ortaya konulamad\u0131\u011f\u0131n\u0131 ifade ederek, \u201cBu \u00e7al\u0131\u015fman\u0131n, SIL1 genine ait mutasyon spektrumunu geni\u015fletmesi, nadir hastal\u0131klar\u0131n genetik tan\u0131s\u0131na katk\u0131 sa\u011flamas\u0131 ve erken tan\u0131, genetik dan\u0131\u015fmanl\u0131k ile gelecekte hedefe y\u00f6nelik tedavilere zemin haz\u0131rlamas\u0131 bak\u0131m\u0131ndan b\u00fcy\u00fck \u00f6nem ta\u015f\u0131yor” dedi.<\/p>\n Genetik analizlerin klinik takip ile birlikte y\u00fcr\u00fct\u00fclmesinin nadir hastal\u0131klar\u0131n tan\u0131 ve anla\u015f\u0131lmas\u0131nda kritik rol oynad\u0131\u011f\u0131n\u0131 vurgulayan Do\u00e7. Dr. Aslan, \u201cGenetik hastal\u0131klar\u0131n temeli ve mekanizmas\u0131n\u0131n ortaya \u00e7\u0131kart\u0131lmas\u0131, bu hastal\u0131klar\u0131n molek\u00fcler ve genetik d\u00fczeyde tedavilerine olanak sa\u011flayacakt\u0131r. Bu \u00e7al\u0131\u015fman\u0131n ard\u0131ndan, ileri a\u015famada planlanan bir y\u00f6ntemle hastal\u0131\u011fa neden olan genin h\u00fccredeki etkisinin azalt\u0131lmas\u0131 hedefleniyor. Bu s\u00fcre\u00e7te, laboratuvar ortam\u0131nda geli\u015ftirilen ve i\u015flevsel \u00f6zellik ta\u015f\u0131yan bir mRNA’n\u0131n, ins\u00fclin uygulamas\u0131na benzer bi\u00e7imde, d\u00fczenli ve kontroll\u00fc g\u00fcnl\u00fck enjeksiyonlarla hastaya verilmesi \u00f6ng\u00f6r\u00fcl\u00fcyor” diye konu\u015ftu.<\/p>\n \u00a0<\/p>\n\n <\/p>\n Kaynak :\u00a0http:\/\/www.milliyet.com.tr\/gundem\/turk-bilim-insanlari-kesfetti-daha-once-tanimlanmamis-bir-genetik-degisiklik-7521526<\/span><\/p>\n","protected":false},"excerpt":{"rendered":" T\u00fcrk bilim insanlar\u0131, nadir g\u00f6r\u00fclen Marinesco-Sj\u00f6gren Sendromu\u2019na sahip bir \u00e7ocukta SIL1 geninde daha \u00f6nce tan\u0131mlanmam\u0131\u015f bir mutasyon ke\u015ffetti. Ara\u015ft\u0131rma, genetik tan\u0131y\u0131 g\u00fc\u00e7lendirirken gelecekte hedefe y\u00f6nelik tedaviler i\u00e7in umut verici bir temel olu\u015fturuyor.<\/p>\n","protected":false},"author":1,"featured_media":168908,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3],"tags":[769,11079,356,11080,4282],"class_list":["post-168907","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-guncel","tag-gen","tag-genetik","tag-hasta","tag-klinik","tag-tani"],"_links":{"self":[{"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/posts\/168907","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/comments?post=168907"}],"version-history":[{"count":1,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/posts\/168907\/revisions"}],"predecessor-version":[{"id":168909,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/posts\/168907\/revisions\/168909"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/media\/168908"}],"wp:attachment":[{"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/media?parent=168907"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/categories?post=168907"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/kamucalisani.net\/index.php\/wp-json\/wp\/v2\/tags?post=168907"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}