Текст олборлолт ба сүлжээний анализаар илрүүлсэн аутизмын хүрээний эмгэгтэй холбоотой генүүд
DOI:
https://doi.org/10.22353/mjeas.v7i1.9322Keywords:
аутизм, аутизмын хүрээний эмгэг, текст олборлолт, сүлжээний анализ, CTNNB1, DLG4, STAT3Abstract
Аутизмын хүрээний эмгэг (АХЭ) нь генетикийн болон хүрээлэн буй орчны олон хүчин зүйлийн нөлөөгөөр мэдрэлийн хөгжлийн хоцрогдол үүсгэдэг нарийн төвөгтэй эмгэг юм. АХЭ-ийн шалтгаан нь одоо ч нарийн тодорхой болоогүй бөгөөд судлаачид энэ төрлийн эмгэгийг илүү сайн ойлгох, эрсдэлт хүчин зүйлсийг үнэлэх, урьдчилан сэргийлэх чиглэлд ихээхэн анхаарал хандуулж байна. Судалгаагаар АХЭ-ийн 50 орчим хувь нь генетик шалтгаантай байх магадлалтай болохыг харуулж байна. Олон тооны уураг кодлогч генд тэр дундаа мэдрэлийн эсийн хөгжил, мэдрэлийн эсийн сигнал дамжуулалт зэрэгт чухал үүрэгтэй генүүдийн мутаци нь АХЭ-тэй холбоотой болох нь тогтоогдоод байна. Бид уг судалгааны ажлаар текст олборлолтын аргаар аутизмтай холбоотой генүүдийн шинжлэх ухааны өгүүллийн хураангуйд дурдагдсан байдлаар нь тодорхойлон, уураг-уургийн харилцан үйлчлэлийн сүлжээ байгуулж, АХЭ-ийн голлох шалтгаан байж болох эмчилгээний бай болох боломжитой уургуудыг тодорхойлов. Үр дүнд нь олон тооны уургуудтай харилцан үйлчилдэг, сүлжээний хувьд зангилаа цэгүүд болж байгаа катенин бета-1 (CTNNB1), синапсын дараах нягтралын 95 (PSD-95 буюу DLG4), сигнал дамжуулагч ба транскрипцийн идэвхжүүлэгч 3 (STAT3) зэрэг уургууд АХЭ үүсэхэд чухал нөлөөтэй байж болохыг тодорхойлов. Мөн бидний байгуулсан сүлжээнд олон тооны цитокинууд байгаа нь дархлааны нөлөөтэй АХЭ-ийн хувилбар байж болохыг харуулж байна. Цаашлаад ДНХ-ийн метилжилт, гистоны модификаци зэрэг процессоор эпигенетикийн түвшинд нөлөөлсөн АХЭ-ийн шалтгаан байж болох нь харагдаж байна. Энэ судалгааны үр дүнд цаашдын судалгаа, эмчилгээний бай болохуйц уургуудыг илрүүлэв.
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