July 28, 2008 - There is no known cure, but there is hope. Cystic fibrosis (CF) is the most common, fatal genetic disease affecting young Canadians. This multi-organ disease, characterized by an over production of mucous in the lungs and digestive system, affects one in every 3,600 children born in Canada. Dr. Richard Rozmahel, scientist at the Lawson Health Research Institute (Lawson) has recently completed a study correcting the cystic fibrosis intestinal mucous defect in mice - a discovery that has clear implications to understanding and treating this facet of both the intestinal and lung disease in humans.
We’ve come a long way
In the late 1930’s, Cystic fibrosis was usually recognized only after a child had died, often as a result of malnutrition or pneumonia. Medical awareness of CF has increased tremendously over the years, and doctors are now able to diagnose most patients within the first year of life. Thanks to advances in research and clinical care, growing numbers of children with CF are surviving into adulthood, compared to statistics in the 1960’s, when most patients died by age four. However, a cure has yet to be defined.
Great minds at work
Dr. Rozmahel and colleagues at Lawson 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 mucous and is implicated in participating in this activity. The team is monitoring the effect of this gene on the intestinal obstructive disease caused by the over production and secretion of mucous, similar to that seen in CF patients. What the researchers have discovered is that mCLCA3 plays an important role in the property of mucous, 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 mucous lesions. Whereas CF mice normally do not survive more than 4 weeks as a consequence of the mucous disease, the animals where mCLCA3 levels were corrected could live a normal lifespan. These results have clear implications to unraveling and eventually treating the lung and intestinal disease in patients.
The future is bright
Researchers at Lawson are continuing with follow up studies to determine how the gene is affecting the abnormal mucous disease. “It’s my hope to understand what is causing the exaggerated mucous production and secretion in CF patients,” says Dr. Rozmahel. “From there, we can figure out ways to correct it.” As of 2002, the median age of survival of Canadians with cystic fibrosis is 37 years of age. With the help of medical research and studies such as this one at Lawson, there is good reason to feel optimistic about the future.
Dr. Richard Rozmahel is a Lawson scientist at the Children’s Health Research Institute and the London Regional Cancer Program located at the London Health Sciences Centre and an Associate Professor of Biochemistry, Paediatrics and Oncology, Schulich School of Medicine & Dentistry at The University of Western Ontario.
