PXD036789-1

PXD036789 is an original dataset announced via ProteomeXchange.

Title	Proteomic analysis of skeletal muscles from wild type and transgenic mice carrying recessive Ryr1 mutations
Description	Skeletal muscle is a highly structured and differentiated tissue responsible for voluntary movement and metabolic regulation. Muscles however, are heterogeneous and depending on their location, speed of contraction, fatiguability and function, can be broadly subdivided into fast and slow twitch as well as subspecialized muscles, with each group expressing common as well as specific proteins. Congenital myopathies are a group of non-inflammatory non-dystrophic muscle diseases caused by mutations in a number of genes, leading to a weak muscle phenotype. In most cases specific muscles types are affected, with preferential involvement of fast twitch muscles as well as extraocular and facial muscles. The aim of this study is to compare the proteome of three groups of muscles from wild type and transgenic mice carrying compound heterozygous mutations in Ryr1 identified in a patient with a severe congenital myopathy. Qualitative proteomic analysis was performed by comparing the relative fold change of proteins in fast twitch and slow twitch muscles. Subsequently we compared the proteome of different muscles in wild type and Ryr1 mutant mice. Finally, we applied a quantitative analysis to determine the stoichiometry of the main protein components involved in excitation contraction coupling and calcium regulation. Our results show that recessive Ryr1 mutations do not only cause a change in RyR1 protein content in skeletal muscle, but they are accompanied by profound changes in protein expression in the different muscle types and that the latter effect may be responsible in part, for the weak muscle phenotype observed in patients.
HostingRepository	PRIDE
AnnounceDate	2022-09-27
AnnouncementXML	Submission_2022-09-27_03:31:49.123.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD036789
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Alexander Schmidt
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2022-09-17 02:52:38	ID requested
⏵ 1	2022-09-27 03:31:49	announced

Dataset with its publication pending

submitter keyword: congenital myopathy, ryanodine receptor mutations, excitation contraction coupling, proteomic profiling

Alexander Schmidt
contact affiliation	Biozentrum, University of Basel, Switzerland
contact email	alex.schmidt@unibas.ch
lab head
Alexander Schmidt
contact affiliation	Proteomics Core Facility
contact email	alex.schmidt@unibas.ch
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD036789
     1. Label: PRIDE project
     2. Name: Proteomic analysis of skeletal muscles from wild type and transgenic mice carrying recessive Ryr1 mutations