ADA FERMENTINING IMMUNOPATIYALARDAGI BIOKIMYOVIY AHAMIYATI
Keywords:
Adenozin deaminaza, og‘ir kombinatsiyalangan immunodefitsit, neyrodevlopmental buzilishlar, gematopoetik ildiz hujayra transplantatsiyasi, gen terapiyasi, o‘pka alveolyar proteinoziAbstract
Adenozindeaminaza fermenti purin metabolizmining muhim komponenti bo‘lib, adenozin va deoksiaadenozinning inosinga parchalanishini katalizlaydi. Ushbu fermentning yetishmovchiligi immun tizimining ishlashiga jiddiy ta’sir ko‘rsatadi, chunki limfotsitlar, ayniqsa T-hujayralar adenozin deaminaza faoliyatiga yuqori sezuvchan bo‘ladi. adenozin deaminaza yetishmovchiligi natijasida toksik metabolitlar, xususan deoksiaadenozin trifosfatlar, limfotsitlarning proliferatsiyasi va funksiyasini inhibe qiladi, bu esa og‘ir kombinatsiyalangan immunodefitsit bilan bog‘liq immunopatiyaga olib keladi.Biokimyoviy jihatdan, adenozin deaminaza fermentining defitsiti sitotoksik metabolitlar yig‘ilishiga olib keladi, buning natijasida T- va B-limfotsitlar soni kamayadi, immun javobning samaradorligi pasayadi va infektsiyalarga qarshi himoya zaiflashadi. Shuningdek, adenozin deaminaza yetishmovchiligi yallig‘lanish, neyrodevlopmental buzilishlar va o‘pka alveolyar proteinoz kabi ekstralimfatik belgilar bilan ham bog‘liq. Adenozin deaminaza defitsitining klinik ko‘rinishlari odatda chaqaloqlik davrida namoyon bo‘ladi, bemorlar tez-tez doimiy bakterial, virusli va zamburug‘li infektsiyalar bilan uchrashadi. Diagnostikada adenozin deaminaza faoliyatini o‘lchash, purin metabolitlarining darajasini aniqlash va genetik tahlil muhim ahamiyatga ega.Davolash strategiyalari orasida enzim almashtirish terapiyasi, gematopoetik ildiz hujayra transplantatsiyasi va gen terapiyasi mavjud. Enzim almashtirish terapiyasi qisqa muddatli immun tiklanish va simptomlarni kamaytirishga yordam beradi, lekin doimiy davolashni talab qiladi. Gematopoetik ildiz hujayra transplantatsiyasi uzoq muddatli va samarali immun tiklanish imkonini beradi, ayniqsa mos donor mavjud bo‘lsa. Yaqinda amalga oshirilgan gen terapiyasi autolog hujayralarda genetik defekti to‘g‘rilash orqali immunologik va klinik samaradorlikni ko‘rsatmoqda.
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