Cystic Fibrosis is a lifelong condition in which many glands will not function properly. It is a Single Gene Disease, meaning it is caused by a mutation in a single gene, the Cystic Fibrosis Transmembrane Regulator, or CFTR gene. There have been thousands of different types of mutations, but the most common one is a deletion in the DNA sequence, causing an absence of one amino acid.
The CFTR Gene
For healthy People, the CFTR gene acts as a channel that allows cells to release ions such as chloride. If you have Cystic Fibrosis, however, this protein is defective and the cells do not release the chloride. This causes cells to have an improper balance of salt in cells.
Cystic Fibrosis can cause lots of coughing or wheezing, respiratory illnesses like bronchitis, low weight, salty skin, and persistent diarrhea. The lungs are clogged and repeatedly infected, and this causes lung cells to last less time than they should. This can cause untreated patients to live shorter lives
People with cystic fibrosis have between much more than the normal amount of salt in their sweat. Therefore, doctors can measure the amount of salt in a person's sweat to determine whether or not they have CF.
Although there is no cure for CF, there are treatments that will help people live longer, such as therapy, and wearing a bronchodilator
Single Gene Disorders. (n.d.). Retrieved March 06, 2017, from http://learn.genetics.utah.edu/content/disorders/singlegene/
Cystic Fibrosis: What is it? (n.d.). Retrieved March 06, 2017, from http://www.ygyh.org/cf/whatisit.htm