Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.

Journal: Cellular and molecular life sciences : CMLS
Published Date: Sep 10, 2024

Abstract

AIM: The availability of disease-modifying therapies and newborn screening programs for spinal muscular atrophy (SMA) has generated an urgent need for reliable prognostic biomarkers to classify patients according to disease severity. We aim to identify cerebrospinal fluid (CSF) prognostic protein biomarkers in CSF samples of SMA patients collected at baseline (T0), and to describe proteomic profile changes and biological pathways influenced by nusinersen before the sixth nusinersen infusion (T302).

Authors

  • Chiara Panicucci
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy.
  • Eray Sahin
    Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Martina Bartolucci
    Core Facilities-Clinical Proteomics and Metabolomics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Sara Casalini
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy.
  • Noemi Brolatti
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy.
  • Marina Pedemonte
    Pediatric Neurology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Serena Baratto
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy.
  • Sara Pintus
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy.
  • Elisa Principi
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy.
  • Adele D'Amico
    Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Marika Pane
    Centro Clinico Nemo, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
  • Marina Sframeli
    Department of Neurosciences, University of Messina, Messina, Italy.
  • Sonia Messina
    Department of Neurosciences, University of Messina, Messina, Italy.
  • Emilio Albamonte
    ASP Potenza, Lauria, Potenza, Italy.
  • Valeria A Sansone
    Neurorehabilitation Unit, Centro Clinico NeMO, University of Milan, Milan, Italy.
  • Eugenio Mercuri
    Centro Clinico Nemo, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
  • Enrico Bertini
    Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy. enricosilvio.bertini@opbg.net.
  • Ugur Sezerman
    Department of Biostatistics and Bioinformatics, Acibadem University, Istanbul, Turkey.
  • Andrea Petretto
    Core Facilities-Clinical Proteomics and Metabolomics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Claudio Bruno
    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy. claudiobruno@gaslini.org.

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