Pathophysiology of CF

CF (Also known as mucoviscidosis or 65 roses)

• autosomal recessive inherited disorder (recap: both parents must be carriers; 25% chance for child to have the disease; 50% chance of being a carrier)


• single gene disorder


• gene mutation along long arm of chromosome 7 (7q21.3 to 7q22.1)


• There are at least 500 different genetic mutations associated with the disease, approximately 70% of the mutations are found to be deletion at position 508 (delta F508) in the amino acid sequence on chromosome 7, making it the most common CF mutation


• the gene codes for a membrane protein in epithelial cells which regulates chloride transport- cystic fibrosis transmembrane regulator (CFTR). Mutation results in defective CFTR


• In 20-30% of cases the secondary and tertiary structure of the protein is altered making the protein non-functional and leading to the chloride channels failing to open in the epithelial cells. The other 70-80% of cases involve the cells quality control processes destroying all the CFTR produced as it is ‘defective’, preventing the ion channels from even forming. Both result in an inability of the cell to control the concentration of ions in the intra and Extracellular fluid.
• So in summary (see diagram below):

xoxo~Shantz

source: Kumar and Clark and www.childsdoc.org