Applications of metabolomics in neonatal cholestasis and cystic fibrosis: the search for markers for diagnosis using mass spectrometry

Author(s)

Cibele Zanardi Esteves

• Document type: Doctoral Thesis
• Press: Campinas, SP.
• Institution: Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas
• Defense date: 2017-05-29

Examining board members

Rodrigo Ramos Catharino; Adriana Pardini Vicentini; Daisy Machado; Gisele Leticia Alves; Mônica Siqueira Ferreira

• Advisor: Rodrigo Ramos Catharino

Abstract

Following the advances of genomics and protection, new fields of "omics" are emerging. The metabolomics complement naturally the studies in the area of genomics and proteomics, however a great physicochemical diversity of the metabolism leads to a subdivision of the metabolites. Thus, lipidomics is present emerging as a discipline at the interface of biochemistry of lipids, technology and medicine. This expansion of the lipid field can be attributed to advances in analytical technology, in particular, there is no development of new mass spectrometry techniques for a characterization and quantification of the various lipid species present in a lipidoma. The objective of this research was a search for biomarkers that represent the disease state and that does not help any development of new diagnostic methods based on mass spectrometry. In this way, two diseases were studied: neonatal cholestasis and cystic fibrosis, analyzing dryed blood spots and skin imprinting and saliva, respectively. Samples collection was simple and non- invasive and were prepared quickly to be directly infused in mass spectrometer, without separation steps. High resolution mass spectrometry associated with statistical validation of the markers on the partial least squares discriminant analysis offered to the developed methods high sensitivity and specificity allowing a potential implementation in the routine of diagnosis of neonatal cholesterol and cystic fibrosis (AU)

• FAPESP's process: 14/00302-0 - Lipidomics shotgun in giardiasis, meningitis and tuberculosis: the search of diagnostic markers, using revolutionary new techniques of mass spectrometry
• Grantee: Cibele Zanardi Esteves
• Support Opportunities: Scholarships in Brazil - Doctorate