Genetic Mutation and Cystic Fibrosis (CF)
Cyctic Fibrosis (CF) is a recessive genetic condition, which is passed down through certain genes, predominantly in the A+ blood line. In Caucasian backgrounds, 1 in 25 people are carriers of the recessive gene.
The main mutation that causes CF lies on chromosome 7, and interferes with the salt regulatory gene. It effects variety of organs and body functions, most severely the lungs and pancreas, by clogging them with thick, sticky mucus. It also has a dramatic effect on the immune system, due to the provision of harmful bacteria with a positive breeding ground. Numerous, or ongoing, lung infections and blockages can result in irreversible lung damage. Those with Cystic fibrosis generally also have a decreased life expectancy, due to decreased health caused by the disease.
In a recent development, Erich Goblins, at the University of Duisburg-Essen, Germany, and colleagues, have found possible alternative explanations for the effects of the disease, but which are complementary to most standing theories. In conducting experiments on mice which have the same genetic mutation, it was found that the acknowledged faulty ion transportation raises the Ph balance within cells and "disrupts the balance between an enzyme called ASM that produces Ceramide, a fatty molecule, and another called acid ceramidase that breaks down Ceramide." (ref: article).
it is believed that the build up of Ceramide kills lung cells and results in mucus deposits and inflammation of lung tissue. Previous to this discovery, it was believed that the main cause of the disease was predominantly due to faulty ion transport, however was based more so on the effects of faulty chloride transport.
If the data is correct, This new development will act to improve knowledge of CF. It has already increased understanding of how the molecular mechanisms leading from the mutation of cystic fibrosis transmembrane conductance regulator (CFTR) to lung infection.
Volker Teichgräber et.al, Ceramide accumulation mediates inflammation, cell death and infection susceptibility in cystic fibrosis, Nature Medicine 14, 382 - 391 (2008)
Published online: 30 March 2008 | doi:10.1038/nm1748
