Cystic fibrosis is a life-shortening, autosomal recessive disease that affects around 70,000 people worldwide, and is seen predominantly in Caucasians. It is marked by the production of a thick, sticky mucus in both the lungs and pancreas due to a defect in the gene CFTR. While most affected individuals die in their 20s and 30s, medical advances have led to a longer life expectancy of around 37 years.
CFTR codes for a transmembrane regulator protein, and is responsible for keeping the water and salt concentrations of cells in check. A defect in the protein, then, causes mucus buildup in the lungs, which then leads to various problems such as difficulty breathing, excessive coughing, inflammation of lung tissue, and improper blood and oxygen circulation. The pancreas, an organ partly responsible for digestion, also produces thick secretions that disrupt digestive enzyme activity and decrease nutrient intake to the body. Due to the trouble in breaking down and absorbing certain foods, gastrointestinal problems are common. Because the pancreas is also responsible for producing insulin, it is not unusual for cystic fibrosis patients to develop diabetes. Medical treatments for the disease include anti-inflammatory drugs, mucus-thinners, and individual techniques for clearing out airway passages.
In a new study at UC San Diego, researchers have found that a defect in a protein called PPAR-g is found in the cells of both cystic fibrosis patients and mice inflicted with the disease. Unsurprisingly, the protein is involved with the regulation of ions across cell membranes. The researchers found that a drug called rosiglitazone, when applied as a treatment in mice, serves to normalize PPAR-g gene expression and therefore mitigates the disease.
Reference: University of California - San Diego (2010, February 15). Defective signaling pathway sheds light on cystic fibrosis. ScienceDaily. Retrieved February 26, 2010, from http://www.sciencedaily.com /releases/2010/02/100214143133.htm
Photo credit: Depiction of healthy lungs on left; lungs with cystic fibrosis on right. Encyclopedia of Human Diseases and conditions. Can be found here.
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