Molecular Dynamics to Explain the Pathogenesis of Gating Class Cystic Fibrosis Mutations

Cystic fibrosis (CF) is an autosomal recessive disorder that afflicts 72000 people world wide. It caused by over 2000 mutations to anion channel, the cystic transmembrane conductance regulator (CFtR) of which Over 300 present disease phenotype. We aim characterise all CF causing CFTR missense in Australian population using molecular dynamics modeling. Here we progress toward this goal presenting a novel discovery 8th helix. evidence important regulatory mechanism identified modeling S945L mutation with enhanced sampling techniques and opening existing models channel investigate other gating class mutations.