Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis

Abstract Voltage-gated potassium channels, Kv3.1, Kv3.2, Kv3.3, and Kv3.4, facilitate rapid repolarization and shape action potentials, which are crucial to maintaining high-frequency firing. Little is known about the expression and function of Kv3 channels in skeletal muscle. We show that these cha...

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Main Authors: Manuela Marabita, Caterina Marchioretti, Aishwarya Aravamudhan, Simona Zito, Antonella Falconieri, Emanuela Zuccaro, Roberta Andreotti, Lisa Gambarotto, Samuele Metti, Marika Tonellato, Valentina Adami, Kyung Ho Park, Martin J. Gunthorpe, Charles H. Large, Agostino Marasco, Sara Vianello, Jessica Rosati, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Manuela Basso, Angelo Poletti, Giuseppe Alvaro, Gianni Sorarù, Paolo Bonaldo, Ornella Rossetto, Nadia Pilati, Maria Pennuto
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Acta Neuropathologica Communications
Online Access:https://doi.org/10.1186/s40478-025-02067-z
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author Manuela Marabita
Caterina Marchioretti
Aishwarya Aravamudhan
Simona Zito
Antonella Falconieri
Emanuela Zuccaro
Roberta Andreotti
Lisa Gambarotto
Samuele Metti
Marika Tonellato
Valentina Adami
Kyung Ho Park
Martin J. Gunthorpe
Charles H. Large
Agostino Marasco
Sara Vianello
Jessica Rosati
Elisa Belluzzi
Assunta Pozzuoli
Carlo Biz
Pietro Ruggieri
Manuela Basso
Angelo Poletti
Giuseppe Alvaro
Gianni Sorarù
Paolo Bonaldo
Ornella Rossetto
Nadia Pilati
Maria Pennuto
author_facet Manuela Marabita
Caterina Marchioretti
Aishwarya Aravamudhan
Simona Zito
Antonella Falconieri
Emanuela Zuccaro
Roberta Andreotti
Lisa Gambarotto
Samuele Metti
Marika Tonellato
Valentina Adami
Kyung Ho Park
Martin J. Gunthorpe
Charles H. Large
Agostino Marasco
Sara Vianello
Jessica Rosati
Elisa Belluzzi
Assunta Pozzuoli
Carlo Biz
Pietro Ruggieri
Manuela Basso
Angelo Poletti
Giuseppe Alvaro
Gianni Sorarù
Paolo Bonaldo
Ornella Rossetto
Nadia Pilati
Maria Pennuto
author_sort Manuela Marabita
collection DOAJ
description Abstract Voltage-gated potassium channels, Kv3.1, Kv3.2, Kv3.3, and Kv3.4, facilitate rapid repolarization and shape action potentials, which are crucial to maintaining high-frequency firing. Little is known about the expression and function of Kv3 channels in skeletal muscle. We show that these channels are expressed in type IIa/IIx fibers, and their transcript levels progressively increase from postnatal age to adulthood in physiological context. In mature myofibers, the Kv3.1 and Kv3.4 channels are enriched in the muscle triads. The expression of the Kv3 channel is lost upon acute motor unit damage, in mouse models of amyotrophic lateral sclerosis (ALS) and spinal and bulbar muscular atrophy (SBMA), and the skeletal muscle of patients with sporadic ALS. Early treatment of ALS and SBMA mice with AUT00201, a positive allosteric modulator of Kv3 channels, improved the phenotype of ALS mice specifically, suggesting that positive modulation of Kv3 channels is a novel therapeutic option for patients with ALS.
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spelling doaj-art-bc1dd6911dfa416e897f03efeebfa7212025-08-20T04:02:44ZengBMCActa Neuropathologica Communications2051-59602025-07-0113111710.1186/s40478-025-02067-zKv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosisManuela Marabita0Caterina Marchioretti1Aishwarya Aravamudhan2Simona Zito3Antonella Falconieri4Emanuela Zuccaro5Roberta Andreotti6Lisa Gambarotto7Samuele Metti8Marika Tonellato9Valentina Adami10Kyung Ho Park11Martin J. Gunthorpe12Charles H. Large13Agostino Marasco14Sara Vianello15Jessica Rosati16Elisa Belluzzi17Assunta Pozzuoli18Carlo Biz19Pietro Ruggieri20Manuela Basso21Angelo Poletti22Giuseppe Alvaro23Gianni Sorarù24Paolo Bonaldo25Ornella Rossetto26Nadia Pilati27Maria Pennuto28BioTiChe Drug Discovery, Istituto di Ricerca Pediatrica Città della SperanzaDepartment of Biomedical Sciences (DBS), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaDepartment of Molecular Medicine (DMM), University of PadovaDepartment of Molecular Medicine (DMM), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaBioTiChe Drug Discovery, Istituto di Ricerca Pediatrica Città della SperanzaNaason Science IncAutifony TherapeuticsAutifony TherapeuticsBioTiChe Drug Discovery, Istituto di Ricerca Pediatrica Città della SperanzaDepartment of Neuroscience (DNS), Neuromuscular Center, University of PadovaCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della SofferenzaDepartment of Orthopaedics and Orthopaedic Oncology, Department of Surgery, Oncology, and Gastroenterology (DiSCOG), University-Hospital of PadovaDepartment of Orthopaedics and Orthopaedic Oncology, Department of Surgery, Oncology, and Gastroenterology (DiSCOG), University-Hospital of PadovaDepartment of Orthopaedics and Orthopaedic Oncology, Department of Surgery, Oncology, and Gastroenterology (DiSCOG), University-Hospital of PadovaDepartment of Orthopaedics and Orthopaedic Oncology, Department of Surgery, Oncology, and Gastroenterology (DiSCOG), University-Hospital of PadovaDepartment of Cellular, Computational and Integrative Biology (CIBIO), University of TrentoDepartment of Biomolecular and Pharmacological Sciences Rodolfo Paoletti, University of MilanBioTiChe Drug Discovery, Istituto di Ricerca Pediatrica Città della SperanzaDepartment of Neuroscience (DNS), Neuromuscular Center, University of PadovaDepartment of Molecular Medicine (DMM), University of PadovaDepartment of Biomedical Sciences (DBS), University of PadovaBioTiChe Drug Discovery, Istituto di Ricerca Pediatrica Città della SperanzaDepartment of Biomedical Sciences (DBS), University of PadovaAbstract Voltage-gated potassium channels, Kv3.1, Kv3.2, Kv3.3, and Kv3.4, facilitate rapid repolarization and shape action potentials, which are crucial to maintaining high-frequency firing. Little is known about the expression and function of Kv3 channels in skeletal muscle. We show that these channels are expressed in type IIa/IIx fibers, and their transcript levels progressively increase from postnatal age to adulthood in physiological context. In mature myofibers, the Kv3.1 and Kv3.4 channels are enriched in the muscle triads. The expression of the Kv3 channel is lost upon acute motor unit damage, in mouse models of amyotrophic lateral sclerosis (ALS) and spinal and bulbar muscular atrophy (SBMA), and the skeletal muscle of patients with sporadic ALS. Early treatment of ALS and SBMA mice with AUT00201, a positive allosteric modulator of Kv3 channels, improved the phenotype of ALS mice specifically, suggesting that positive modulation of Kv3 channels is a novel therapeutic option for patients with ALS.https://doi.org/10.1186/s40478-025-02067-z
spellingShingle Manuela Marabita
Caterina Marchioretti
Aishwarya Aravamudhan
Simona Zito
Antonella Falconieri
Emanuela Zuccaro
Roberta Andreotti
Lisa Gambarotto
Samuele Metti
Marika Tonellato
Valentina Adami
Kyung Ho Park
Martin J. Gunthorpe
Charles H. Large
Agostino Marasco
Sara Vianello
Jessica Rosati
Elisa Belluzzi
Assunta Pozzuoli
Carlo Biz
Pietro Ruggieri
Manuela Basso
Angelo Poletti
Giuseppe Alvaro
Gianni Sorarù
Paolo Bonaldo
Ornella Rossetto
Nadia Pilati
Maria Pennuto
Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
Acta Neuropathologica Communications
title Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
title_full Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
title_fullStr Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
title_full_unstemmed Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
title_short Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
title_sort kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis
url https://doi.org/10.1186/s40478-025-02067-z
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