BOLALAR KASALLIKLARI AMALIYOTIDA GENETIK FERMENTOPATIYALARNI TASHXISLASHNING DOLZARBLIGI
Abstract
Ma’lumki, Mukopolisaxaridozlar genetik nuqsonlar tufayli yuzaga keladigan noyob fermentopatiyalar bo‘lib, asosan lizosomal to‘planish kasalliklar guruhini tashkil etadi. Ushbu guruh genetik nuqsonlarda kasallikning patogenezi sifatida glikozaminoglikanlarning parchalanishida ishtirok etadigan fermentlarning yetishmasligi keltiriladi. Ta’kidlangan fermentlar hujayralar yopishishi va hujayra signalizatsiyasi kabi jarayonlarda ishtirok etadigan uzun, shoxlanmagan polisaxaridlar hisoblanadi. Aynan parchalanmagan glikozaminoglikanlar mukopolisaxaridozlarning asosiy va bevosita sababi hisoblanadi va ushbu to'planish hujayralarda avtofagiya, apoptoz va mitoxondrial disfunksiya kabi og‘ir darajali holatlarga olib kelishi mumkin.
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