explain effects of mutations QuickChek what are the effects of cystic fibrosis
Cystic fibrosis is a genetic disorder that occurs due to mutations in the CFTR gene. The CFTR gene provides instructions for the production of a protein called cystic fibrosis transmembrane conductance regulator (CFTR), which is responsible for maintaining the balance of salt and water on the surface of cells in various organs, including the lungs, pancreas, and digestive system.
The effects of cystic fibrosis can vary from person to person, but typically, mutations in the CFTR gene lead to the production of an abnormal CFTR protein or no protein at all. This affects the proper functioning of cells and has several significant consequences:
1. Respiratory problems: The abnormal CFTR protein impairs the movement of chloride ions in and out of cells, leading to the buildup of thick, sticky mucus in the airways. This mucus obstructs the air passages, making it difficult for a person with cystic fibrosis to breathe properly. It also provides a favorable environment for bacterial growth, leading to recurrent lung infections.
2. Digestive issues: The CFTR protein is also responsible for regulating the movement of salt and water in the pancreas, which aids in the digestion process. In people with cystic fibrosis, the malfunctioning CFTR protein leads to a deficiency of digestive enzymes, resulting in poor nutrient absorption, weight loss, and malnutrition.
3. Merocrine gland dysfunction: Merocrine glands are responsible for the production of sweat, tears, and mucus. As CFTR protein dysfunction affects these glands, people with cystic fibrosis often have abnormally salty sweat (which can be used as a diagnostic test), reduced tear production, and thickened mucus in various organs throughout their bodies.
4. Increased susceptibility to infections: The accumulation of thick mucus in the lungs and other affected organs provides a breeding ground for bacteria. Consequently, individuals with cystic fibrosis are more prone to frequent and severe respiratory infections, including pneumonia and bronchitis.
5. Other complications: Cystic fibrosis can lead to other complications such as nasal polyps, sinusitis, liver disease, impaired fertility in males, and osteoporosis.
It is important to note that the severity of the disease can vary widely as different mutations in the CFTR gene result in different levels of functionality of the CFTR protein.