Analysis of CFTR Gene Mutations in Cystic Fibrosis

Abstract

Cystic Fibrosis is a genetic disorder caused by mutations in the CFTR gene. Despite significant advances in recent years, the specific molecular mechanisms of how different CFTR mutations affect disease severity remain unclear. In this study, we analyzed various CFTR mutations to show their impact on Cystic Fibrosis phenotypes, geographical regions, structural modifications in the CFTR protein, and potential functional implications. A statistical association between mutation type and clinical significance was assessed, showing that some mutation types like missense mutations were more likely to be pathogenic. Geographical analysis indicated variant frequencies were distinct across various global populations, hinting towards the role of genetic drift and possibly the Founder Effect from Northern Europeans. The preliminary structural analysis provided insights into how specific mutations, like F508del, might alter the protein conformation affecting its function. Employing machine learning tools, we analyzed the functional implications of specific mutations, helping to establish a genotype-phenotype correlation. Our findings provide a multi-dimensional view of CFTR mutations which enhances our understanding of Cystic Fibrosis and potentially help in personalized patient care.