CFTR combinations

What are CFTR combinations?

The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene codes the function of the chloride ion channel which is at the surface of some epithelial cells. Mutations to the CFTR gene causes defects in chloride transport that leads to an alteration of epithelial fluid transport in the lung and other organs, which causes cystic fibrosis. CFTR potentiators repair defects in chloride transport, and are used to treat cystic fibrosis patients with a specific gene mutation. CFTR combinations drugs are when more than one CFTR potentiator is combined into one drug for increased efficacy.

More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes.

There are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation. CFTR modulators address various problems caused by different types of CFTR mutations.

These mutations can change the location of genes on chromosomes and can even change the number of copies of some genes. There are four types of chromosomal mutations: deletion, duplication, inversion, and translocation.

Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR gene provides instructions for the CFTR protein . People who inherit two copies of a mutated CFTR gene (one copy from each biological parent) will have cystic fibrosis.

Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories–missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)–are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients.