The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology

Migocka-Patrzałek, Marta; Lewicka, Anna; Elías, Magdalena Remón; Daczewska, Małgorzata

doi:10.1016/j.biocel.2019.105658

Cited by 19 publications

(15 citation statements)

References 38 publications

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“…A zebrafish model of McArdle disease has been recently reported [ 6 , 45 ] ( Table 1 ). The zebrafish ( Danio rerio ) has two genes encoding GP-MM: phosphorylase, glycogen muscle, A ( Pygma ) and B ( Pygmb ) genes, respectively (with both sharing more than 80% of sequence identity with human PYGM gene).…”

Section: Animal Modelsmentioning

confidence: 99%

“…The zebrafish ( Danio rerio ) has two genes encoding GP-MM: phosphorylase, glycogen muscle, A ( Pygma ) and B ( Pygmb ) genes, respectively (with both sharing more than 80% of sequence identity with human PYGM gene). Pygma encodes a GP-MM protein of 842 amino acids, while Pygmb encodes three different GP-MM proteins of 842, 195 and 49 amino acids [ 45 ]. However, the two shorter variants lack important domains for glycogen phosphorylation such as the pyridoxal phosphate attachment site.…”

Section: Animal Modelsmentioning

confidence: 99%

“…GP-MM protein was shown to increase its levels during zebrafish development, which correlated with a decrease in muscle glycogen levels. In parallel, GP-MM distribution in the muscles changed from dispersed to highly organized, showing a clearly striated pattern and co-localizing with α-actinin in the Z-line of sarcomeres [ 45 ]. These events corresponded to an increase in the energy demands, due to the first movements of the developing embryo.…”

Section: Animal Modelsmentioning

confidence: 99%

See 2 more Smart Citations

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Villarreal-Salazar

Brull

Nogales‐Gadea

et al. 2021

Genes

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McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite presenting some differences with the typical patient’s phenotype, these models allow for a deep study of the different features of the disease while representing a necessary preclinical step to assess the efficacy and safety of possible treatments before they are tested in patients.

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Section: Animal Modelsmentioning

confidence: 99%

Section: Animal Modelsmentioning

confidence: 99%

Section: Animal Modelsmentioning

confidence: 99%

See 1 more Smart Citation

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Villarreal-Salazar

Brull

Nogales‐Gadea

et al. 2021

Genes

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“…Przejściowe wyciszenie pygma i pygmb osiągnięte dzięki zastosowaniu oligonukleotydów morfolino doprowadziło do obniżonia poziomu Pygm w morfantach danio. Efekty wyciszenia przypominały objawy choroby McArdle'a obserwowane u pacjentów, mianowicie zmienione, zdezintegrowane mięśnie i akumulację ziaren glikogenu [74]. Te zmiany wskazują, że danio pręgowane z wyciszoną ekspresją białka Pygm może stanowić efektywny model tej ludzkiej choroby i w przyszłości przyczynić się do lepszego zrozumienia jej mechanizmów molekularnych i opracowania odpowiedniego leczenia.…”

Section: Choroba Mcardle'aunclassified

Czego jeszcze nie wiemy o mięśniach szkieletowych?

et al. 2021

Self Cite

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Mięśnie szkieletowe są wysoce wyspecjalizowaną tkanką zwierzęcą, której podstawową funkcją jest skurcz, przekładający się na ruch zwierząt. Jednym z typów mięśni szkieletowych są mięśnie tułowia (miotomalne) należące u kręgowców do najstarszej filogenetycznie grupy mięśni. Porównawcze badania miogenezy miotomalnej wykazały, że mięśnie te mają podobny plan budowy, jednak mimo kontroli przez te same czynniki genetycznych, mogą różnicować się odmiennie u poszczególnych gatunków kręgowców (zarówno u gatunków modelowych jak i niemodelowych). Poznanie mechanizmów rozwoju mięśni szkieletowych jest warunkiem sine qua non w zrozumieniu stanów chorobowych tkanki mięśniowej obserwowanych u ludzi. W pracy podsumowano aktualną wiedzę dotyczącą różnicowania mięśni szkieletowych zwierząt, stanów patologicznych mięśni spowodowanych mutacjami w genach białek strukturalnych oraz metabolicznych mięśni.

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“…(d) Zebrafish model In this model, the two forms of muscle glycogen phosphorylase encoded by Pygma and Pygmb genes (which share more than 80% of amino acid sequence identity with human PYGM) were knockdown using morpholino strategy and resulted in reduced protein levels in zebrafish morphants, which exhibited altered, disintegrated muscle structure and accumulation of glycogen granules in the subsarcolemmal region [215].…”

Section: (C) Mouse Modelmentioning

confidence: 99%

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Almodóvar-Payá

Villarreal-Salazar

Luna

et al. 2020

IJMS

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GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). Several different GSD animal models have been found to naturally present spontaneous mutations and others have been developed and characterized in order to further understand the physiopathology of these diseases and as a useful tool to evaluate potential therapeutic strategies. In the present work we have reviewed a total of 42 different animal models of GSD, including 26 genetically modified mouse models, 15 naturally occurring models (encompassing quails, cats, dogs, sheep, cattle and horses), and one genetically modified zebrafish model. To our knowledge, this is the most complete list of GSD animal models ever reviewed. Importantly, when all these animal models are analyzed together, we can observe some common traits, as well as model specific differences, that would be overlooked if each model was only studied in the context of a given GSD.

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The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology

Cited by 19 publications

References 38 publications

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Czego jeszcze nie wiemy o mięśniach szkieletowych?

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

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