What cellular dysfunctions lead to cystic fibrosis?

Question

I think its to do with transmembrane protein dysfunctions and protein misfolding? But is there more and are they interlinked?

Answer 1

There are over 1500 different mutations that cause CF, and the functional details are different from variant to variant. The feature that they share in common is a failure to transport salt to the outside of the cell. Protein misfolding is the mechanism for the most common variant.

The drug development pipeline section of the CFF website (cited below) covers related information as part of its discussion of drugs that are in development to treat the cellular dysfunctions directly.

Answer 2

The cause of cystic fibrosis is related to an abnormality in the gene found on chromosome 7. The cause of cystic fibrosis is inherited in an autosomal fashion.

Cystic fibrosis is seen most commonly in Caucasians.

The cause of cystic fibrosis results in a decrease in chloride secretion across membranes and epithelial surfaces, associated with excess of sodium resorption. This results in thick secretions in the respiratory tract, and pancreas. These patients also develop dysfunctional male reproductive tracts characterized by obstruction of the vas deferens.

Answer 3

The protein doesn't function properly.. Protein misfolding is correct.

the CFTR protein made from its blueprint is made incorrectly, and cannot perform its function properly.

The CFTR protein helps to produce mucus. Mucus is a complex mixture of salts, water, sugars, and proteins that cleanses, lubricates, and protects many passageways in the body, including those in the lungs and pancreas. The role of the CFTR protein is to allow chloride ions to exit the mucus-producing cells. When the chloride ions leave these cells, water follows, thinning the mucus. In this way, the CFTR protein helps to keep mucus from becoming thick and sluggish, thus allowing the mucus to be moved steadily along the passageways to aid in cleansing.

In CF, the CFTR protein cannot allow chloride ions out of the mucus-producing cells. With less chloride leaving, less water leaves, and the mucus becomes thick and sticky. It can no longer move freely through the passageways, so they become clogged. In the pancreas, clogged passageways prevent secretion of digestive enzymes into the intestine, causing serious impairment of digestion--especially of fat--which may lead to malnutrition. Mucus in the lungs may plug the airways, preventing good air exchange and, ultimately, leading to emphysema. The mucus is also a rich source of nutrients for bacteria, leading to frequent infections.

Answer 4

Angela is exactly correct.

Answer 5

When they absorb too much śhit from the skin around the aśśhole.