Understanding the Underlying Cause of CF Focus of Research in Australia

Cystic Fibrosis (CF) is caused by mutations in the Cftr gene (short for cystic fibrosis transmembrane conductance regulator). The CFTR protein is responsible for transporting chloride and sodium ions in and out of lung and intestinal epithelium cells, and so in the absence of CFTR functional protein, thick mucus accumulates, thus making CF patients more susceptible to infections. This accumulation is associated with recurrent infections that culminate in difficulty in breathing and escalate to life-threatening symptoms, such as pulmonary failure.

Now, Cystic Fibrosis Federation Australia reports two ongoing projects attempting to understand the underlying causes for CF. In a first project entitled “Correcting the cellular defects that cause cystic fibrosis,” a team of researchers is trying to assess how efficient gene therapy is as a treatment for CF. Here, patients’ cells lining the airways are targeted to receive copies of a cystic fibrosis gene that are fully correct and functional. This line of therapeutic will ensure that the new genetic information will overcome the detrimental effects that cause CF and lung disease. The research is led by scientists at the Department of Respiratory and Sleep Medicine at the Women’s and Children’s Hospital that previously showed, in mice, that viruses carrying the fully functional gene corrected the genetic defect associated with CF in the cells of the airways for a period of more than a year. The project is being performed in collaboration with researchers at the Centre for Stem Cell Research at the Robinson Institute, Monash University, and the SPring-8 Synchrotron in Japan.

A second project, entitled “Detecting pollutant particles on live airways,” will determine how air pollutants, such as dust, lead, asbestos, and fiberglass damage the airways in the lungs. This project will be achieved using synchrotron x-rays and a represents a key factor because it will allow monitoring pollutants inside the body without having to perform surgery or biopsy.

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These studies will allow the researchers to understand how air pollutants once in the airways can result in damage of the lungs and contribute to lung diseases. Moreover, It will determine if synchrotron technology can be used in the future to monitor treatment benefits of respiratory diseases, such as cystic fibrosis.

This project is led by Dr David Parsons, leader of the Cystic Fibrosis Stream at the Children’s Research Centre and Chief Medical Scientist in the Department of Respiratory and Sleep Medicine at the Women’s and Children’s Hospital.