Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle

Akyürek, Eylem Emek; Busato, Francesca; Murgiano, Leonardo; Bianchini, Elisa; Carotti, Marcello; Sandonà, Dorianna; Drögemüller, Cord; Gentile, Arcangelo; Sacchetto, Roberta

doi:10.3390/ijms232012364

Cited by 2 publications

(1 citation statement)

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“…Brody myopathy is due to a deficiency of SERCA1 protein isoform, exclusively expressed in fast‐twitch muscle fibres. A wide difference in fibre types composition of diaphragm muscle has been described between mice and large mammals, including humans (Akyürek et al, 2022). Newborn SERCA1 knockout mice exhibit severely impaired diaphragmatic function and respiratory failure causing premature death within 2 h and making them an unsuitable animal model for this human myopathy.…”

Section: Discussionmentioning

confidence: 99%

The dorsal portion of the bovine diaphragm as a useful tissue for producing a 3D muscle scaffold

et al. 2023

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Three‐dimensional (3D) organoids are an innovative approach to obtain an in vitro model for ex vivo studies to overcome the limitations of monolayer cell culture and reduce the use of animal models. An organoid of skeletal muscle requires the presence of the extracellular matrix to represent a functional muscle in vitro, which is why decellularized tissue is an optimal choice. Various muscles have been considered to produce a muscle organoid, most from rodents or small animals, and only recently some studies have been reported on the muscles of large animals. This work presents a muscular organoid produced from the bovine diaphragm, which has a peculiar multilayered structure with different fibre orientations depending on the considered area. This paper analyses the anatomical structure of the bovine diaphragm, selects the most appropriate portion, and presents a decellularization protocol for a multilayered muscle. In addition, a preliminary test of recellularization with primary bovine myocytes was presented with the future aim of obtaining a 3D muscle allogenic organoid, completely bovine‐derived. The results demonstrate that the dorsal portion of bovine diaphragm presents a regular alternation of muscular and fibrous layers and that the complete decellularization does not affect the biocompatibility. These results provide a strong foundation for the potential application of this portion of tissue as a scaffold for in vitro studies of muscle organoids.

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Section: Discussionmentioning

confidence: 99%

The dorsal portion of the bovine diaphragm as a useful tissue for producing a 3D muscle scaffold

et al. 2023

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

Akyürek,

Greco,

Tesoriero

et al. 2024

IJMS

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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.

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Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle

Cited by 2 publications

References 33 publications

The dorsal portion of the bovine diaphragm as a useful tissue for producing a 3D muscle scaffold

The dorsal portion of the bovine diaphragm as a useful tissue for producing a 3D muscle scaffold

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

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