Abstract
Cystic fibrosis (CF) is a disabling genetic disease with an increased prevalence in European heritage populations. Currently, the most used technique for collection of CF samples and diagnosis is provided through uncomfortable tests, with uncertain results, mostly based on chloride concentration in sweat. Since CF 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. This contribution describes an accurate strategy to provide potential biomarkers related to CF, 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 CF patients. Metabolomics analysis allowed identifying chemical markers that can be traced back to CF 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 CF. The comfortable method of sample collection combined with the identified set of biomarkers represent potential tools that open the range of possibilities to manage CF and follow the disease evolution. This exploratory approach points to new perspectives about the development of diagnostic assay using biomarkers and the management CF.
Highlights
Cystic fibrosis (CF) is a recessive genetic exocrine disorder that affects the transport of fluids and electrolytes through cell membrane, resulting in abnormal viscous secretion in multiple organs
All patients presented deficits in lung function and 69% presented two or more different microorganism isolated from sputum within the past 12 months
Regarding the CT group, it was composed of 16 healthy individuals within the same gender and age range as the CF group and was submitted to sample collection at the same period as CF patients
Summary
Cystic fibrosis (CF) is a recessive genetic exocrine disorder that affects the transport of fluids and electrolytes through cell membrane, resulting in abnormal viscous secretion in multiple organs. This disease affects all racial and ethnic groups, Caucasians are the most affected; 1 in every 2,000–3,000 European newborns presents CF [1]. 2,000 CFTR mutations are known to cause CF; some may be responsible for milder CF phenotypes, while others present more severe manifestations These differences at CFTR gene mutation locus generates great heterogeneity, making clinical and even laboratory diagnosis difficult tasks [8]. Since CF 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
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
