PXD049207

PXD049207 is an original dataset announced via ProteomeXchange.

Title	Fiber type-specific proteomic alterations in R349P desminopathy mice
Description	Desminopathies refer to a group of rare human myopathies and cardiomyopathies, caused by mutations in the desmin gene. So far, there is no causative treatment and little is known about early pathological effects, since alterations in muscle biopsies usually reflect late stages of the disease. Thus, effort has been made to create animal models closely mirroring the human disease pathology. In the present work, we studied the effects of wild type desmin, as well as one of the most common mutations causing desminpathy in humans either heterozygously or homozygously expressed in a mouse model system. With our innovative approach coupling laser microdissection and mass spectrometry, we were able to define disease-associated alterations on the level of muscle fiber types. This allowed us to determine fiber-type specific changes in response to the desmin mutation, revealing profound differences in the proteomic profile of type I and type IIa fibers of homozygous mice. Desmin levels were severly decreased, leading to alterations in the expression of extracellular matrix and myofibrillary proteins. Further a clear mitochondrial pathology could be verified, whereby lower levels of mitochondrial complexes I and V could be observed, as well as a decreased expression of essential mitochondrial transporters, adding to the complexity of molecular symptoms caused by the mutation in the desmin gene.
HostingRepository	PRIDE
AnnounceDate	2025-05-26
AnnouncementXML	Submission_2025-05-25_16:24:52.452.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Britta Eggers
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	monohydroxylated residue; deamidated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2024-02-06 06:46:53	ID requested
⏵ 1	2025-05-25 16:24:53	announced

10.1002/mus.28379;

Eggers B, Schork K, Turewicz M, Barkovits K, Eisenacher M, Schr, ö, der R, Clemen CS, Marcus K, Fiber Type-Specific Proteomic Alterations in R349P Desminopathy Mice. Muscle Nerve, 71(6):1113-1121(2025) [pubmed]

submitter keyword: myofibrillar myopathy, desmin, proteomics,Fiber types

Katrin Marcus
contact affiliation	Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany
contact email	katrin.marcus@rub.de
lab head
Britta Eggers
contact affiliation	Ruhr University Bochum
contact email	britta.eggers@rub.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD049207
     1. Label: PRIDE project
     2. Name: Fiber type-specific proteomic alterations in R349P desminopathy mice