NLRP3 inflammasome as a novel target for cystic fibrosis treatment

Abstract

Cystic fibrosis is an autosomal recessive genetic disease caused by mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. The CFTR gene has been mapped to 7q31.2 (Navarro 2016). Today, more than 2000 mutations have been identified in the CFTR gene which varies depending on ethnicity (The Clinical and Functional TRanslation of CFTR (CFTR2)). Mutations detected in Turkish population are genetically heterogeneous and different from European populations. In Europe, incidence rates ranging from 1:2800 to 1:10,000 have been reported, while incidence in Asia has greater variance between countries, ranging from 1:5800 in Bahrain to 1:350,000 in Japan (Scotet et al. 2020). As a result of epidemiological studies conducted in central Turkey, the incidence of CF was estimated to be 2.9 per 10,000 live births