UMOD GENINING DEKODLANISHI: GENETIK MEXANIZMLAR, DIAGNOSTIKA VA TERAPEVTIK INNOVATSIYALAR ORQALI SURUNKALI BUYRAK KASALLIGI UCHUN AHAMIYATI
Abstrakt
Ushbu maqolada UMOD genining genetik variantlarini, ularning funktsional oqibatlarini va SBK patogenezidagi rolini o‘rganish bo‘yicha so‘nggi yutuqlar muhokama qilinadi. Shuningdek, UMOD genetik tahlili asosida SBKni erta aniqlash, prognoz qilish va bemorlarni individual yondashuvlar asosida guruhlash bo‘yicha klinik qo‘llash imkoniyatlari tahlil qilinadi. UMOD funksiyasini yanada keng qamrovli baholashga yordam beradigan transkriptomika, proteomika va metabolomika yondashuvlaridagi ilg‘or usullar ham muhokama qilinadi. Surunkali buyrak kasalligi (SBK) dunyo bo‘ylab millionlab odamlarni qamrab olgan global sog‘liq muammosi bo‘lib. Genetik omillar SBK etiologiyasi va rivojlanishida muhim rol o‘ynaydi, buyrak kasalligining yuzaga kelishi, og‘irligi va davoga javobini belgilaydi. Shu jumladan, UMOD geni tomonidan kodlangan glikoprotein uromodulin buyrak faoliyati, naychalar yaxlitligi va kasallik xavfi bilan bog‘liq asosiy omillardan biri hisoblanadi. UMODdagi o‘zgarishlar natijasida natriy tashish jarayoni, immun javob va oksidlovchi stress regulyatsiyasi buziladi, bu esa gipertenziya, nefron shikastlanishi va SBK rivojlanishiga olib kelishi mumkin. So‘nggi genom miqyosidagi assotsiatsion tadqiqotlar (GWAS) shuni ko‘rsatdiki, UMOD polimorfizmlari SBK va unga bog‘liq asoratlar rivojlanish xavfini oshiradi. UMOD va giperurikemiya o‘rtasidagi o‘zaro bog‘liqlik ham SBK progressiyasida muhim omil bo‘lib, uromodulinning urat tashish va chiqarilish jarayonlarida ishtirok etishi aniqlangan. Xulosa: UMOD genotiplash orqali shaxsiy tibbiyot rivojlanib, individual xavf baholash, dori terapiyasini moslashtirish va SBK rivojlanishining oldini olish bo‘yicha turmush tarzini o‘zgartirishga yangi imkoniyatlar yaratmoqda. Bundan tashqari, UMOD ekspressiyasini farmakologik modulyatsiya qilish va gen terapiyasi singari yangi davolash usullari istiqbolli yo‘nalishlardan biri sifatida ko‘rib chiqilmoqda. Genetik tushunchalarni klinik qo‘llash bilan birlashtirib, ushbu sharh UMOD genining SBK patogenezidagi muhim rolini ta’kidlaydi va uning aniq nefrologiya uchun muhim nishon bo‘lish imkoniyatlarini yoritadi, bu esa bemor natijalarini yaxshilash va kasallikni boshqarish strategiyalarini takomillashtirishga yo‘l ochadi.
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