PODAGRA GENETIK KODINGDA: IRSIYAT IZLARI VA MOLEKULYAR DALILLAR
Keywords:
Podagra, metabolik artropatiya, oilaviy yuvinil giperyurikemik nefropatiyalar, medullyar kistoz buyrak kasalliklari, giperurikemiya, ULD, siydik kislotasi, SLC2A9, SLC22A12, ABCG2,Abstract
Podagra—bu purin almashinuvi buzilishi oqibatida rivojlanadigan, monosodyum urat kristallarining to‘qimalarda cho‘kishi bilan kechuvchi metabolik artropatiya bo‘lib, zamonaviy molekulyar-genetik tadqiqotlar uning monogen va poligen shakllarda irsiy uzatilishini ko‘rsatmoqda. Ushbu ilmiy ishda podagraning patogenezida ishtirok etuvchi asosiy transport genlari, jumladan, SLC2A9 (GLUT9), SLC22A12 (URAT1), ABCG2, UMOD va ular tomonidan kodlanadigan oqsillarning funksional ahamiyati, siydik kislotasi renal ekskresiyasi va reabsorbsiyasidagi roli tahlil qilinadi. Xususan, allelik variantlar va SNP’lar (single nucleotide polymorphisms) asosida urat transporti mexanizmlariga ta’sir qiluvchi genetik determinantlar, ularning giperurikemiya va podagra rivojlanishidagi etiopatogenetik hissasi chuqur ilmiy tahlil ostiga olinadi. Bundan tashqari, oilaviy yuvinil giperyurikemik nefropatiyalar (OYGN), medullyar kistoz buyrak kasalliklari (MKBK) kabi autosomal dominant sindromlar kontekstida UMOD genidagi mutatsiyalarning klinik va molekulyar ta’siri yoritiladi. Podagraga oid genetik biomarkerlardan klinik amaliyotda foydalanish, shuningdek farmakogenetik jihatdan allopurinol va febuksostat kabi ULD (urat lowering drugs) preparatlariga individual javob reaksiyasini bashoratlash imkoniyati ham muhokama qilinadi.
Ushbu maqola podagrani molekulyar va genetik asosda aniqlash, uning irsiy omillar orqali shakllanishini tasdiqlovchi dalillarni tahlil qilish hamda siydik kislotasi metabolizmidagi genetik determinantlarning klinik ifodalanishiga bo‘lgan ta’sirini ilmiy asosda yoritishga qaratilgan. Tadqiqot natijalari podagraning multifaktorial, biroq genetik komponenti yetakchi bo‘lgan kasallik ekanligini ko‘rsatadi. Bu esa uni nasliy asoslangan metabolik kasallik sifatida qayta baholash va kelajakdagi genetik skrining, profilaktika va fundamental tadqiqotlar uchun zarur ilmiy poydevor yaratadi.
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