Cystic Fibrosis Research

Cystic Fibrosis is a disease that is caused by a mutation in the CFTR gene. CFTR stands for cystic fibrosis transmembrane conductance regulator whose mutation commonly leads to the deletion of three nucleotides which code for the amino acid phenylalanine. The mutation, therefore, leads to the loss of this amino acid.
The mutant CFTR leads to the disease as the incorrect protein folding is detected in the endoplasmic reticulum which leads the protein to be degraded and thus never reaches the cell membrane whereas with a normal CFTR protein, the protein actually reaches the cell membrane and is integrated into it.
CFTR works as a channel that exports chloride ions across the membrane; this is the function that is affected when the gene is mutated.