Studying CFTR Mutations Leading to Cystic Fibrosis and Elucidation of CFTR Modulator Mechanisms

Goda, Katalin KláraMqatywa, Tshepang2023-05-102023-05-102023-05-09https://hdl.handle.net/2437/352548Cystic fibrosis (CF) is an autosomal reccessive Mendelian disorder that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene that encodes the 1480 glycoprotein is charectarised by over 2000 mutations that are classified into six classes. Clinical manifestations of CF varies among patients, due to the wide disease spectrum of this disorder that is found mostly in Caucasian population. Currently there is no cure for CF, but several symptomatic treatments, along with novel therapeutic approaches that include CFTR modulators such as correctors and potentiators are available. Additionally, next-generation CFTR modulators , along with gene therapy, gene editing and stem cell-based therapies are the prospective new approaches to CF treatment. Thus, although with some caveat, CF research is promising and hopefully one day CF will stand for ´Cure Found´.54enABC transportersCFTRModulatorsStudying CFTR Mutations Leading to Cystic Fibrosis and Elucidation of CFTR Modulator MechanismsDEENK Témalista::Biológiai tudományokHozzáférhető a 2022 decemberi felsőoktatási törvénymódosítás értelmében.