Dataset Information

RyR1 protein decrease induces ER stress and plays a major role in myopathies

ABSTRACT: It has been recently shown that RyR1 protein decrease induces in vivo most features of myopathy. However, the mechanisms underlying these disorders are not clarified. In the present study, using bioinformatics, OMICS, molecular biology and imaging system, we decipher how decreased RyR1 content in muscle cell leads to the development of muscle disease. Our results show that RyR1 depletion induces mitochondrial aggregation and dysfunction by defects in mitophagy and endoplasmic reticulum (ER)-mitochondrial tethering and alters lipid homeostasis. Those alterations are associated with the ER stress.

INSTRUMENT(S): timsTOF Pro

ORGANISM(S): Homo Sapiens (human) Mus Musculus (mouse)

TISSUE(S): Skeletal Muscle, Permanent Cell Line Cell, Somatic Muscle Myotube

SUBMITTER: Manfredo Quadroni

LAB HEAD: Nadege Zanou

PROVIDER: PXD039693 | Pride | 2024-01-26

REPOSITORIES: pride

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Dataset's files

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			Action	DRS
	20210216_144250_Zanou_12811-822.kit	Other
	20210216_192402_Zanou-DIA-12811-22.sne	Other
	20210217_103210_Zanou-DIA-12811-22_Report.log.txt	Txt
	20210217_103210_Zanou-DIA-12811-22_Report.params	Other
	20210217_103210_Zanou-DIA-12811-22_Report.setup.txt	Txt

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Publications

Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.

Vidal Jeremy J Fernandez Eric A EA Wohlwend Martin M Laurila Pirkka-Pekka PP Lopez-Mejia Andrea A Ochala Julien J Lobrinus Alexander J AJ Kayser Bengt B Lopez-Mejia Isabel C IC Place Nicolas N Zanou Nadège N

Journal of cachexia, sarcopenia and muscle 20231115 6

<h4>Background</h4>Decreased ryanodine receptor type 1 (RyR1) protein levels are a well-described feature of recessive RYR1-related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies and (2) to investigate the mechanisms by which decreased RyR1 protein triggers muscular disorders.<h4>Methods</h4>We used publicly available datasets, muscles from human inflammatory and mitochondrial myopathies, an inducible muscle-speci ...[more]

PMID: 37964752

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