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Article

The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy

1
Department of Comparative Biomedicine and Food Science, University of Padova, Viale Dell’università 16, 35020 Legnaro, Italy
2
Department of Biotechnology, University of Verona, Strada Le Grazie 15, 37134 Verona, Italy
3
Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/b, 35131 Padova, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(17), 9229; https://doi.org/10.3390/ijms25179229
Submission received: 28 June 2024 / Revised: 6 August 2024 / Accepted: 17 August 2024 / Published: 25 August 2024
(This article belongs to the Special Issue Zebrafish as a Model in Human Disease: 3rd Edition)

Abstract

Brody disease (BD) is an “ultra-rare” human genetic disorder of skeletal muscle function due to defects in the atp2a1 gene causing deficiency of the SERCA protein, isoform1. The main clinical signs are exercise-induced stiffness and delayed muscular relaxation after physical exercises, even mild ones. No mouse model nor specific therapies exist for Brody myopathy, which is therefore considered an orphan disease. Bovine congenital pseudomyotonia (PMT) is a muscular disorder characterized by an impairment of muscle relaxation and is the only mammalian model of human BD. The pathogenetic mechanism underlying bovine PMT has been recently clarified. These findings prompted us to purpose a potential pharmacological approach addressing a specific population of BD patients who exhibit reduced expression but still exhibit activity of the SERCA1 pump. Preclinical research involving in vivo studies is essential and necessary before clinical trials can be pursued and SERCA protein shows a high degree of conservation among species. So far, the only animal models available to study BD in vivo are a group of zebrafish mutant lines known as accordion zebrafish (acc). In this paper, we focused on a comprehensive characterization of the “acctq206” zebrafish variant. Our aim was to use this mutant line as an experimental animal model for testing the novel therapeutic approach for BD.
Keywords: skeletal muscle diseases; zebrafish; Sarco(endo)plasmic reticulum Ca2+-ATPase isoform 1 (SERCA1); human Brody disease skeletal muscle diseases; zebrafish; Sarco(endo)plasmic reticulum Ca2+-ATPase isoform 1 (SERCA1); human Brody disease

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MDPI and ACS Style

Akyürek, E.E.; Greco, F.; Tesoriero, C.; Dalla Barba, F.; Carotti, M.; Gorni, G.; Sandonà, D.; Vettori, A.; Sacchetto, R. The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy. Int. J. Mol. Sci. 2024, 25, 9229. https://doi.org/10.3390/ijms25179229

AMA Style

Akyürek EE, Greco F, Tesoriero C, Dalla Barba F, Carotti M, Gorni G, Sandonà D, Vettori A, Sacchetto R. The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy. International Journal of Molecular Sciences. 2024; 25(17):9229. https://doi.org/10.3390/ijms25179229

Chicago/Turabian Style

Akyürek, Eylem Emek, Francesca Greco, Chiara Tesoriero, Francesco Dalla Barba, Marcello Carotti, Giulia Gorni, Dorianna Sandonà, Andrea Vettori, and Roberta Sacchetto. 2024. "The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy" International Journal of Molecular Sciences 25, no. 17: 9229. https://doi.org/10.3390/ijms25179229

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