Cystic Fibrosis

An explanation of the causes and potential treatments for cystic fibrosis.

This paper begins by explaining that cystic fibrosis is a genetic disease, which is caused by the mutation of the gene called ‘cystic fibrosis transmembrane regulator (CFTR). The paper shows how recent studies have brought about improvements in the life expectancy of CF sufferers, and there are hopes, through gene therapy of improving it even further.

Contents
Introduction
Definition of Term
Protein Influence
Diagnosis
Treatment
Conclusion
Cystic fibrosis is an inherited disease which cannot be prevented. When CFTR protein in cells that line passageways of the lungs, pancreas, colon, and genitourinary tract are abnormal, two problems result: blockage of the movement of chloride ions and secretion of abnormal levels of mucus. These problems are caused by a mutation of the CFTR, which is called deltaF508 CFTR. This mutation . . . accounts for 70-80 percent of all CF cases. Various other mutations . . . seem to be the cause of other CF cases (CaringParents.org., 2003, 1). This could mean that there are other, undetected as yet, causes for cystic fibrosis.