Chapter 6: Targeted metabolomics
by Michele Costanzo, Marianna Caterino, Margherita Ruoppolo
Targeted metabolomics is an analytical application of mass spectrometry that encompasses the measurement of defined groups of chemically characterized and biochemically annotated metabolites. Targeted metabolomics platforms have become integral part of clinical research and diagnosis, allowing the better characterization and understanding of pathophysiology mechanisms of disease, in particular for metabolic disorders. Accordingly, the greatest success of the application of targeted metabolomics is represented by the diagnosis of inborn errors of metabolism through the national newborn screening programs. The alteration in the clinical phenotype of the newborns reflects alterations in their metabolome. In fact, variations in the metabolomic signatures are promptly detected through the precise and accurate quantitation of “biomarker metabolites” that are confidently specific for certain diseases. The early diagnosis performed via targeted metabolomics approaches allows the presymptomatic management of the patients, preventing severe sequelae and permanent damage in organs and tissues.
His scientific activity is mainly devoted to the development of multi-omics integrative approaches in the field of systems biology, implementing mass spectrometry-based proteomics, metabolomics, and lipidomics techniques with bioinformatics procedures.
Her scientific activity has been devoted to developing new methodologies in the field of clinical proteomics and metabolomics, applying integrated strategies based on classical biochemical methodologies combined with biomolecular mass spectrometric procedures. She teaches in the Biochemistry course at the School of Medicine, and Proteomics and Metabolomics course at Biotechnology of Health of the University of Naples "Federico II".
The scientific activity of Margherita Ruoppolo has focused on the characterization of post-translational modifications and proteomics methodologies for the molecular medicine. In addition, she has applied metabolomics methodologies in the study of inborn errors of metabolism, for the definition of molecular pathways in rare hereditary disorders.
Currently, she is responsible of the laboratory of expanded newborn screening of inborn errors of metabolism for the Campania region at CEINGE – Biotecnologie Avanzate (Naples).