Nature Communications (Feb 2023)
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
- Caterina Marchioretti,
- Giulia Zanetti,
- Marco Pirazzini,
- Gaia Gherardi,
- Leonardo Nogara,
- Roberta Andreotti,
- Paolo Martini,
- Lorenzo Marcucci,
- Marta Canato,
- Samir R. Nath,
- Emanuela Zuccaro,
- Mathilde Chivet,
- Cristina Mammucari,
- Marco Pacifici,
- Anna Raffaello,
- Rosario Rizzuto,
- Andrea Mattarei,
- Maria A. Desbats,
- Leonardo Salviati,
- Aram Megighian,
- Gianni Sorarù,
- Elena Pegoraro,
- Elisa Belluzzi,
- Assunta Pozzuoli,
- Carlo Biz,
- Pietro Ruggieri,
- Chiara Romualdi,
- Andrew P. Lieberman,
- Gopal J. Babu,
- Marco Sandri,
- Bert Blaauw,
- Manuela Basso,
- Maria Pennuto
Affiliations
- Caterina Marchioretti
- Department of Biomedical Sciences (DBS), University of Padova
- Giulia Zanetti
- Department of Biomedical Sciences (DBS), University of Padova
- Marco Pirazzini
- Department of Biomedical Sciences (DBS), University of Padova
- Gaia Gherardi
- Department of Biomedical Sciences (DBS), University of Padova
- Leonardo Nogara
- Department of Biomedical Sciences (DBS), University of Padova
- Roberta Andreotti
- Department of Biomedical Sciences (DBS), University of Padova
- Paolo Martini
- Department of Molecular and Translational Medicine, University of Brescia
- Lorenzo Marcucci
- Department of Biomedical Sciences (DBS), University of Padova
- Marta Canato
- Department of Biomedical Sciences (DBS), University of Padova
- Samir R. Nath
- Department of Pathology, University of Michigan Medical School
- Emanuela Zuccaro
- Department of Biomedical Sciences (DBS), University of Padova
- Mathilde Chivet
- Dulbecco Telethon Institute (DTI) at the Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento
- Cristina Mammucari
- Department of Biomedical Sciences (DBS), University of Padova
- Marco Pacifici
- Department of Biomedical Sciences (DBS), University of Padova
- Anna Raffaello
- Department of Biomedical Sciences (DBS), University of Padova
- Rosario Rizzuto
- Department of Biomedical Sciences (DBS), University of Padova
- Andrea Mattarei
- Department of Pharmaceutical and Pharmacological Sciences, University of Padova
- Maria A. Desbats
- Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova, and Fondazione Istituto di Ricerca Pediatrica Città della Speranza
- Leonardo Salviati
- CIR-Myo, Centro Interdipartimentale di Ricerca di Miologia, University of Padova
- Aram Megighian
- Department of Biomedical Sciences (DBS), University of Padova
- Gianni Sorarù
- Padova Neuroscience Center (PNC)
- Elena Pegoraro
- Department of Neuroscience (DNS), University of Padova
- Elisa Belluzzi
- Orthopedics and Orthopedic Oncology, Department of Surgery, Oncology, and Gastroenterology DiSCOG, University-Hospital of Padova
- Assunta Pozzuoli
- Orthopedics and Orthopedic Oncology, Department of Surgery, Oncology, and Gastroenterology DiSCOG, University-Hospital of Padova
- Carlo Biz
- Orthopedics and Orthopedic Oncology, Department of Surgery, Oncology, and Gastroenterology DiSCOG, University-Hospital of Padova
- Pietro Ruggieri
- Orthopedics and Orthopedic Oncology, Department of Surgery, Oncology, and Gastroenterology DiSCOG, University-Hospital of Padova
- Chiara Romualdi
- Department of Biology, University of Padova
- Andrew P. Lieberman
- Department of Pathology, University of Michigan Medical School
- Gopal J. Babu
- Department of Cell Biology and Molecular Medicine, Rutgers, New Jersey Medical School
- Marco Sandri
- Department of Biomedical Sciences (DBS), University of Padova
- Bert Blaauw
- Department of Biomedical Sciences (DBS), University of Padova
- Manuela Basso
- Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento
- Maria Pennuto
- Department of Biomedical Sciences (DBS), University of Padova
- DOI
- https://doi.org/10.1038/s41467-023-36185-w
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 19
Abstract
Marchioretti and colleagues show that in the skeletal muscle of SBMA mice and patients there is an early, but reversible alteration of expression of genes involved in muscle contraction and of mitochondrial respiration, followed by accumulation of calcium inside the mitochondria, which is concomitant with the onset of motor dysfunction, and late alteration of muscle structure.
