Patient-friendly test for CF within spitting distance
Cystic fibrosis (CF) is one of the most common potentially lethal genetic conditions in Europe. Symptoms include thick mucous production from submucosal glands in the lungs, intestines, pancreas and liver. This causes gross system disruption and ultimately potential multi-system failure. Genetically, the disease is the result of a mutation in a single gene, the cystic fibrosis transmembrane conductance regulator (CFTR). One of the inherent problems encountered in treatment of CF involves lack of definitive diagnosis so that effective timely therapy can be applied. For example, growth problems due to lack of digestive enzyme production in young children can be avoided. Given prompt identification, a high calorie and vitamin diet and a supply of the enzymes taken orally can be prescribed. There are many tests for CF and normally more than one test will be run to confirm the disease. Sweat tests on the basis of salt content can be carried out but false positives are not unknown. The alternatives include genetic testing looking for variation in the CFTR gene, enzyme and fat content in stools, lung function, and an immunoreactive trypsinogen test. Accordingly, the EU funded project EUROPROCF aimed to identify proteins specifically transcribed in CF individuals. This would then increase understanding of the disease and improve diagnosis and therapy. Danish project partners based at the University of Copenhagen, during their research into the disease, unexpectedly found a possible basis for a simple patient-friendly test. During screening using lectin column chromatography and electrophoreitic separation, they found elevated levels of saliva glycoproteins in CF sufferers. This was further confirmed in later investigations during the course of the project. Moreover, the increases were shown to be distinct and significant. On the basis of these findings, further investigations were planned to specifically identify the characteristics of the new glycoproteins, the exact biochemical alterations and quantitative changes. For sufferers of cystic fibrosis and carriers of the disease, further refinement of a simple chemical test as a diagnostic tool would be a very welcome development. Moreover, the test would be economic and could help in the quest to provide better, more prompt care for CF patients.
