221
© Springer Nature B.V. 2020
G. Sindona et al. (eds.), Toxic Chemical and Biological Agents, NATO Science
for Peace and Security Series A: Chemistry and Biology,
https://doi.org/10.1007/978-94-024-2041-8_15
Chapter 15
Data Independent Acquisition Mass
Spectrometry for Proteomic Advances into
Isolated Methylmalonic Acidemia
Michele Costanzo, Marianna Caterino, Armando Cevenini,
Laxmikanth Kollipara, Olga Shevchuk, Chi D. L. Nguyen, Albert Sickmann,
and Margherita Ruoppolo
This reaction is normally supported by adenosylcobalamin which is the MUT cofactor. The result of this enzymatic block is the accumulation of methylmalonyl- CoA
that is hydrolyzed to form methylmalonic acid. As a biomarker of the disease, methylmalonic acid is identified and quantified in patients’ body fluids, i.e.,
urine and blood by liquid chromatography - tandem mass spectrometry (LC-MS/
MS) or gas chromatography - mass spectrometry (GC-MS) to make a diagnosis.
Other metabolites dosed for the diagnosis and the clinical monitoring of
methylmalonic acidemia are propionylcarnitine, 3-OH-propionic acid, methylcitric
acid, and the amino acids glycine and alanine. Since the first month of the newborn
period, patients can show neurologic manifestations and metabolic instability with
M. Costanzo (*) · M. Caterino · M. Ruoppolo
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di
Napoli “Federico II”, Naples, Italy
CEINGE – Biotecnologie Avanzate scarl, Naples, Italy
Associazione Culturale DiSciMuS RFC, Casoria, Naples, Italy
e-mail: michele.costanzo@unina.it
A. Cevenini
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di
Napoli “Federico II”, Naples, Italy
CEINGE – Biotecnologie Avanzate scarl, Naples, Italy
L. Kollipara · O. Shevchuk · C. D. L. Nguyen
Leibniz-Institut für Analytische Wissenschaften – ISAS – e.V., Dortmund, Germany
A. Sickmann
Leibniz-Institut für Analytische Wissenschaften – ISAS – e.V., Dortmund, Germany
Medical Proteome Centre, Ruhr Universität Bochum, Bochum, Germany
Department of Chemistry, College of Physical Sciences, University of Aberdeen,
Aberdeen, UK
© Springer Nature B.V. 2020
G. Sindona et al. (eds.), Toxic Chemical and Biological Agents, NATO Science
for Peace and Security Series A: Chemistry and Biology,
https://doi.org/10.1007/978-94-024-2041-8_15
Chapter 15
Data Independent Acquisition Mass
Spectrometry for Proteomic Advances into
Isolated Methylmalonic Acidemia
Michele Costanzo, Marianna Caterino, Armando Cevenini,
Laxmikanth Kollipara, Olga Shevchuk, Chi D. L. Nguyen, Albert Sickmann,
and Margherita Ruoppolo
This reaction is normally supported by adenosylcobalamin which is the MUT cofactor. The result of this enzymatic block is the accumulation of methylmalonyl- CoA
that is hydrolyzed to form methylmalonic acid. As a biomarker of the disease, methylmalonic acid is identified and quantified in patients’ body fluids, i.e.,
urine and blood by liquid chromatography - tandem mass spectrometry (LC-MS/
MS) or gas chromatography - mass spectrometry (GC-MS) to make a diagnosis.
Other metabolites dosed for the diagnosis and the clinical monitoring of
methylmalonic acidemia are propionylcarnitine, 3-OH-propionic acid, methylcitric
acid, and the amino acids glycine and alanine. Since the first month of the newborn
period, patients can show neurologic manifestations and metabolic instability with
M. Costanzo (*) · M. Caterino · M. Ruoppolo
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di
Napoli “Federico II”, Naples, Italy
CEINGE – Biotecnologie Avanzate scarl, Naples, Italy
Associazione Culturale DiSciMuS RFC, Casoria, Naples, Italy
e-mail: michele.costanzo@unina.it
A. Cevenini
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di
Napoli “Federico II”, Naples, Italy
CEINGE – Biotecnologie Avanzate scarl, Naples, Italy
L. Kollipara · O. Shevchuk · C. D. L. Nguyen
Leibniz-Institut für Analytische Wissenschaften – ISAS – e.V., Dortmund, Germany
A. Sickmann
Leibniz-Institut für Analytische Wissenschaften – ISAS – e.V., Dortmund, Germany
Medical Proteome Centre, Ruhr Universität Bochum, Bochum, Germany
Department of Chemistry, College of Physical Sciences, University of Aberdeen,
Aberdeen, UK