Skin Biomarkers for Cystic Fibrosis: A Potential Non-Invasive Approach for Patient Screening
Skin Biomarkers for Cystic Fibrosis: A Potential Non-Invasive Approach for Patient Screening
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DOI：
10.3389/fped.2017.00290
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发表时间：
2018-01-10
影响因子：
2.6
通讯作者：
Catharino, Rodrigo Ramos
中科院分区：
文献类型：
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作者：
Esteves, Cibele Zanardi;Dias, Leticia de Aguiar;Catharino, Rodrigo Ramos
背景：囊性纤维化（CF）是一种致残性遗传病，在欧洲传统人群中患病率有所增加。目前，最常用的CF样本采集和诊断技术是通过不舒服的测试提供的，结果不确定，主要基于汗液中的氯化物浓度。由于 CF 突变会引起患者的许多代谢变化，探索这些改变可能是可视化潜在生物标志物的替代方案，这些生物标志物可用作进一步诊断升级的有趣工具，优先考虑简单性、低成本和快速性。方法：本贡献描述了提供与 CF 相关的潜在生物标志物的准确策略，这可以被理解为新诊断方法和/或监测疾病演变的潜在工具。因此，目前的建议包括使用硅胶板上的皮肤印记作为样本收集方式，然后进行直接输注高分辨率质谱和多变量数据分析，旨在识别CF患者皮肤成分的代谢变化。结果：代谢组学分析允许识别可追溯到患者皮肤印记中的CF的化学标记物，这与对照受试者不同。从几个分子类别中选出了七种化学标记物，以胆汁酸、戊二酸衍生物、促甲状腺素释放激素、炎症介质、磷脂酸和二酰甘油异构体为代表，所有这些都反映了 CF 引起的代谢紊乱。结论：舒适的样本采集方法与已识别的一组生物标记物相结合，代表了潜在的工具，为管理 CF 和跟踪疾病演变提供了可能性。这种探索性方法为使用生物标志物和管理 CF 的诊断测定的开发提供了新的视角。
Background: 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.Methods: 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.Results: 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.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 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.