PXD031605

PXD031605 is an original dataset announced via ProteomeXchange.

Title	Identification of muscle biomarkers in McArdle disease
Description	Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This results in a block in the use of muscle glycogen as an energetic substrate, with subsequent exercise intolerance. The GSDV pathophysiology is still not fully understood, especially with regard to some features such as muscle contractures or persistent muscle damage (i.e., even without prior exercise). We aimed at identifying muscle protein biomarkers of GSDV by analyzing the muscle proteome and the molecular networks associated with muscle dysfunction. Muscle biopsies from 8 patients and 8 controls were studied by quantitative protein expression using isobaric tags for relative and absolute quantitation (iTRAQ) followed by artificial neuronal networks (ANNs) and topology analysis. Protein candidate validation was performed by western-blot. Several proteins predominantly involved in the process of muscle contraction and/or calcium homeostasis, such as myosin, sarcoplasmic/endoplasmic reticulum calcium ATPase 1, tropomyosin alpha-1 chain, tro-ponin isoforms, and alpha-actinin-3 showed significantly lower expression levels in muscle of GSDV patients. These proteins could be potential biomarkers of the persistent muscle damage reported in GSDV patients. Further studies are needed to elucidate the molecular mechanisms by which PYGM controls the expression of these proteins.
HostingRepository	PRIDE
AnnounceDate	2022-06-09
AnnouncementXML	Submission_2022-06-09_02:26:09.049.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Ines Garcia-Consuegra Galiana
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	LTQ Orbitrap Velos

Revision	Datetime	Status	ChangeLog Entry
0	2022-02-11 06:15:37	ID requested
⏵ 1	2022-06-09 02:26:09	announced

Garc, í, a-Consuegra I, Asensio-Pe, ñ, a S, Garrido-Moraga R, Pin, ó, s T, Dom, í, nguez-Gonz, á, lez C, Santalla A, Nogales-Gadea G, Serrano-Lorenzo P, Andreu AL, Arenas J, Zugaza JL, Lucia A, Mart, í, n MA, Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis. Int J Mol Sci, 23(9):(2022) [pubmed]

submitter keyword: Human, Muscle, Proteomic, RP-LC-MS/MS, iTRAQ

Ines Garcia-Consuegra
contact affiliation	Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)
contact email	inesgcg@h12o.es
lab head
Ines Garcia-Consuegra Galiana
contact affiliation	Hospital 12 de Octubre
contact email	inesgcg@h12o.es
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD031605
     1. Label: PRIDE project
     2. Name: Identification of muscle biomarkers in McArdle disease