Orphans come in from the cold
30 August 2011
Feature
Rare diseases are less rare than you might think, reports Bea Perks, and finding drugs for them can mean big business

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Coeliac disease is a chronic intolerance to gluten – a protein found in wheat, barley, rye and oats – that leads to inflammation of the small intestine. This can cause malnutrition and diarrhoea in sufferers.
Presently, diagnosing coeliac disease involves sending samples away to be tested using laborious and expensive enzyme-linked immunosorbent assays (ELISAs), followed by an intestinal biopsy. But now, a team lead by Agustín Costa-García, from the University of Oviedo, Spain, have made an immunosensor that recognises in serum the major triggering factors of coeliac disease: partially digested gladins. ‘These peptides [gladins] are resistant to digestion by gastric and pancreatic enzymes,' explains Costa-García. 'They reach the epithelial cell membrane and pass into the cytosol, where their deamidation by the enzyme tissue transglutaminase takes place, creating epitopes with increased immunostimulatory potential’
Dianping Tang, from Fuzhou University, China, who also develops immunoassays for biomedical applications, is enthusiastic about the Costa-García’s approach. ‘This methodology is simpler than existing systems, and lower in cost. It could result in a sensitive and rapid immunoassay of celiac disease,’ he says.
Costa-García emphasises that the immunosensor is not a ready-to-use device, but a prototype of what could be an electrochemical analytical tool for coeliac disease diagnosis. ‘We consider that these are important steps in the development of a point-of-care analytical system that will contribute to the quality of patients’ lives, reducing the need to perform invasive procedures,’ he says.
Marta M P S Neves et al, Analyst, 2013, DOI: 10.1039/C3AN36728B
30 August 2011
Feature
Rare diseases are less rare than you might think, reports Bea Perks, and finding drugs for them can mean big business
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