New research into cystic fibrosis has identified previously unknown biomarkers for the disease in a person’s sweat. The findings could lead to more accurate diagnosis and better treatment options for those living with the disease.
Cystic fibrosis is a genetically recessive disease which affects one in every 3,600 children in Canada. CF causes a number of complications, including digestive issues, sinus infections, liver disease and, most prominently, progressive lung damage caused by chronic infections and inflammation. Currently, there is no cure for CF and the average life expectancy of those in the developed world with CF is between 42 and 50.
Yet, with better detection and disease management, CF patients are living longer and fuller lives. Research has shown that CF is not singularly expressed, meaning that people with CF develop symptoms to different degrees, while the progression of the disease may also vary. Thus, the more scientists learn about the disease and how it manifests, the more clinicians will be able to tailor treatment options for those with CF.
To that end, researchers at McMaster University in Hamilton, the Hospital for Sick Children in Toronto and the University of Toronto looked into a commonly employed method for testing for CF, the sweat test, and discovered that it can reveal a lot more about those with CF than previously thought.
Distinctive to those with CF is a high chloride content in sweat, and thus, when a doctor suspects a patient (usually a child) might have CF, the sweat test is administered. Yet, a positive result doesn’t predict the severity of CF in any particular infant with the CF gene mutation. As well, about ten per cent of the time, the sweat test produces a “borderline” result, which complicates diagnosis.
Working with sweat samples from infants with CF at the McMaster Children’s Hospital and the Hospital for Sick Children, researchers identified new compounds in the sweat of those with CF consistently found in quantities different than those without the disease, including pilocarpine, which helps stimulate sweat secretion, pilocarpic acid as well as an environmental compound.
“Sweat contains lots of information related to human health that researchers have not fully analyzed and we found some unexpected chemicals associated with CF,” says Philip Britz-McKibbin, lead author of the study and a professor in the Department of Chemistry and Chemical Biology at McMaster University, in a press release.
The researchers say that testing for these new biomarkers could be helpful in cases where the chloride test is inconclusive, while it also adds to our knowledge of CF’s expression. “This work sheds new light into the underlying mechanisms of CF pathophysiology as required for new advances in precision medicine of orphan diseases that benefit from early detection and intervention, including new molecular targets for therapeutic intervention,” say the study’s authors.
In particular, the results could lead to better drug therapy for CF, says Britz-McKibbin, to “Paraoxonase deficiency could be treated with small molecules that activate the enzyme, which could be a valuable adjuvant therapy to enhance the efficacy of antibiotic treatment against recurrent lung infections.”
The new results are published in the journal ACS Central Science.