Cystic fibrosis | Chromosome mutation

Cystic fibrosis

Cystic fibrosis is a clinical picture that is caused by a mutation in a chloride channel. These channels are important for the formation of mucus in the body, as water can leak out following the chloride and thus the mucus becomes thinner. Although all organ systems are affected by this disease, the lungs are in the foreground.

The viscous mucus prevents the lungs from performing their self-cleaning function. A thin mucus is the prerequisite for the removal of pathogens and other substances from the lungs. The lack of purification leads to an increased incidence of pneumonia.

This is one of the reasons why those affected have a drastically reduced life expectancy. The mutation of the canal is due to a gene mutation. This means that the sequence of the components of the DNA within the gene is altered.

The mutation is much smaller than chromosomal mutations but with very serious consequences. Hundreds of different mutations of the gene are known, all of which lead to a dysfunction of the channel.