RT Journal Article SR Electronic T1 Skin biomarkers for cystic fibrosis: a potential noninvasive approach for patient screening JF bioRxiv FD Cold Spring Harbor Laboratory SP 182733 DO 10.1101/182733 A1 Cibele Zanardi Esteves A1 Letícia de Aguiar Dias A1 Estela de Oliveira Lima A1 Diogo Noin de Oliveira A1 Carlos Fernando Odir Rodrigues Melo A1 Carla Cristina Souza Gomez A1 José Dirceu Ribeiro A1 Antônio Fernando Ribeiro A1 Carlos Emílio Levy A1 Rodrigo Ramos Catharino YR 2017 UL http://biorxiv.org/content/early/2017/08/30/182733.abstract AB Background Cystic fibrosis is a disabling genetic disease with an increased prevalence in populations with European heritage. Currently, the most used technique for collection of cystic fibrosis samples and diagnosis is provided through uncomfortable tests, with uncertain results, mostly based on chloride concentration in sweat. Since cystic fibrosis mutation induces many metabolic changes in patients, exploring these alterations might be an alternative to visualize potential biomarkers that could be used as interesting tools for further diagnostic upgrade, prioritizing simplicity, low cost and quickness.Methods This contribution describes an accurate strategy to provide potential biomarkers related to cystic fibrosis, which may be understood as a potential tool for new diagnostic approaches and/or for monitoring disease evolution. Therefore, the present proposal consists of using skin imprints on silica plates as a way of sample collection, followed by direct-infusion high-resolution mass spectrometry and multivariate data analysis, intending to identify metabolic changes in skin composition of cystic fibrosis patients.Results Metabolomics analysis allowed identifying chemical markers that can be traced back to cystic fibrosis in patients’ skin imprints, differently from control subjects. Seven chemical markers from several molecular classes were elected, represented by bile acids, a glutaric acid derivative, thyrotropin releasing hormone, an inflammatory mediator, a phosphatidic acid, and diacylglycerol isomers, all reflecting metabolic disturbances that occur due to of cystic fibrosis.Conclusion The comfortable method of sample collection combined with the identified set of biomarkers represent potential tools that open the range of possibilities to manage cystic fibrosis and follow the disease evolution. This exploratory approach points to new perspectives about cystic fibrosis management and maybe to further development of a new diagnostic assay based on them.