Breakthrough holds promise for cystic fibrosis

 

This discovery by Richard Rozmahel, an associate professor of Biochemistry, Pediatrics and Oncology at the Schulich School of Medicine & Dentistry and scientist with the Lawson Health Research Institute, has clear implications to understanding and treating this facet of the disease in humans.

Cystic fibrosis is a fatal, genetic disease affecting 70,000 children and adults worldwide, and characterized by an overproduction of mucus in the lungs and digestive system. Compared to the 1960's, when most patients died by age four, the median age of survival is now 37 years.
Rozmahel and his colleagues are identifying secondary genes that could contribute to CF, and measuring their impact on the disease. More specifically, they are investigating the potential of a gene found in mice, mCLCA3, which is similar to one in humans that exhibits abnormal levels in CF. The mCLCA3 gene is expressed by cells that produce and secrete mucus.

The researchers discovered that mCLCA3 plays an important role in the property of mucus, thereby allowing it to be cleared rather than result in the blockages that underlie CF. By correcting the abnormal levels of mCLCA3 in CF mice they were able to overcome the mucus lesions.

Whereas CF mice normally do not survive more than four weeks as a consequence of the mucus disease, the animals where mCLCA3 levels were corrected could live a normal lifespan.

"It's my hope to understand what is causing the exaggerated mucus production and secretion in CF patients," says Dr. Rozmahel. "From there, we can figure out ways to correct it."