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PXD036789-1

PXD036789 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleProteomic analysis of skeletal muscles from wild type and transgenic mice carrying recessive Ryr1 mutations
DescriptionSkeletal 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.
HostingRepositoryPRIDE
AnnounceDate2022-09-27
AnnouncementXMLSubmission_2022-09-27_03:31:49.123.xml
DigitalObjectIdentifierhttps://dx.doi.org/10.6019/PXD036789
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportSupported dataset by repository
PrimarySubmitterAlexander Schmidt
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationListNo PTMs are included in the dataset
InstrumentQ Exactive HF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02022-09-17 02:52:38ID requested
12022-09-27 03:31:49announced
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: congenital myopathy, ryanodine receptor mutations, excitation contraction coupling, proteomic profiling
Contact List
Alexander Schmidt
contact affiliationBiozentrum, University of Basel, Switzerland
contact emailalex.schmidt@unibas.ch
lab head
Alexander Schmidt
contact affiliationProteomics Core Facility
contact emailalex.schmidt@unibas.ch
dataset submitter
Full Dataset Link List
Dataset FTP location
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