Causes of cystic fibrosis

Gene mutation in cystic fibrosis

Cystic fibrosis (also: cystic fibrosis, CF) is one incurable metabolic disease. she is a genetic Disease that one autosomal recessive Inheritance follows. Every person has a double set of chromosomes (one from the father and one from the mother) with genes distributed over them, which means that there are two genes for each property.

Autosomal recessive means that the disease only manifests itself if both genes show the defect for cystic fibrosis, so both father and mother must have been carriers of the diseased gene and passed it on to their child. Those who only have one mutated gene are not sick themselves, but they can pass the disease on to their children.

In cystic fibrosis this is so-called CFTR gene changed (mutated) on the Chromosome 7 is located. More than 1000 mutations have already been proven that can cause cystic fibrosis through certain changes, but the most common is the mutation ? F508where the amino acid Phenylalanine absent in the gene. This makes up about 70% of diseases.

The CFTR gene codes for one Chloride channel. As a result of the genetic defect, these chloride channels are only produced incorrectly by the body, which severely affects the function of the channels. They are located in the cell membranes of various organs and are normally permeable to chloride ions, making them responsible for the Fluid content the secretions are from different tissues. Because the chloride channels built into cystic fibrosis patients no longer function properly, the secretion is not sufficiently enriched with fluid and it is formed tough, thick secretions.

Organs that are particularly affected are the pancreas and the lung, but there are also CFTR channels in the Small intestine, in the Biliary tract, in Sweat- and in Sex glands. The viscous secretion has slowed flow rates and therefore leads, for example, to the bronchi in the lungs becoming stuck or clogging the ducts of glands. As a result, the organs are significantly restricted in their functions and are also sometimes more susceptible to Infections. This ultimately gives rise to the very different symptoms of cystic fibrosis.