Chapter 6: Targeted metabolomics

by Michele Costanzo, Marianna Caterino, Margherita Ruoppolo 

Abstract

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.

Michele Costanzo

Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Naples, Italy - CEINGE—Biotecnologie Avanzate s.c.ar.l., Naples, Italy

Michele Costanzo is a post-doctoral researcher in Biochemistry at the School of Medicine of the University of Naples ‘‘Federico II’’. He graduated in Genetic Sciences and Technologies in 2015 and obtained his PhD in Molecular Medicine and Medical Biotechnology in 2020 at the University of Naples "Federico II".
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.

Marianna Caterino

Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Naples, Italy - CEINGE—Biotecnologie Avanzate s.c.ar.l., Naples, Italy

Marianna Caterino graduated in Chemistry in 2002 and got her PhD in Biotechnology Sciences in 2007 at the University of Naples "Federico II". She is a researcher in Biochemistry at the School of Medicine of the University of Naples Federico II.
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".

Margherita Ruoppolo

Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Naples, Italy - CEINGE—Biotecnologie Avanzate s.c.ar.l., Naples, Italy

Margherita Ruoppolo graduated in Chemistry in 1990 and got her PhD in Chemical Sciences in 1997 at the University of Naples "Federico II". Since 2007, she is Full Professor of Biochemistry at the School of Medicine of the University of Naples “Federico II”, where she is in charge of the teaching courses of Biochemistry and Proteomics for several degree faculties.
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).