Getting the Cure First: Benefit of Clinical Trials
Cystic fibrosis is one of the most common inherited diseased affecting the entire body resulting in progressive disability and early death. Cystic fibrosis is characterized by its childhood onset and prevalence among Europeans and Ashkenazi Jews. It is so common that one in twenty-two people with roots in Europe are carriers for the Cystic Fibrosis gene.
Cystic Fibrosis
Genetic relevance:
The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene is the main gene of importance in Cystic Fibrosis. A mutation in this gene impairs normal creation and secretion of sweat, mucus, and digestive juices. The CFTR gene is said to exhibit an autosomal recessive mode of inheritance. What this means is that only one of two gene copies is needed for normal functioning. Therefore, only if both parents give their child a mutated CFTR gene, cystic fibrosis will result.
Mechanism: The mechanism of disease in Cystic Fibrosis is related specifically to a malformed microscopic “gate” that only opens to a specific molecule. The gate in question is known as a Chloride (Cl-) channel. The CFTR gene makes this gate. If the CFTR gene is mutated, this gate will develop improperly. With a dysfunctional gate, Cl- will not be able to pass through it. The end product of this process results in sweat, mucus, and digestive juices that are thicker than normal. These thickened fluids impair the body’s ability to absorb nutrients or even permit oxygen to pass from the lung into the blood. This impairment causes the body to attempt to repair itself which result in scarring and cyst formation characteristic to cystic fibrosis.
There is no cure for Cystic Fibrosis so most patients die very young, usually from lung failure. As Cystic fibrosis progresses, lung transplants are usually necessary. However, with advancing transplantation techniques and other new treatments, cystic fibrosis patients are living longer.
