Proteomics

Dataset Information

0

Identification of muscle biomarkers in McArdle disease


ABSTRACT: 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.

INSTRUMENT(S): LTQ Orbitrap Velos

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Skeletal Muscle

DISEASE(S): Glycogen Storage Disease V

SUBMITTER: Ines Garcia-Consuegra Galiana  

LAB HEAD: Ines Garcia-Consuegra

PROVIDER: PXD031605 | Pride | 2022-06-09

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
130916_Ines_iTRAQ.raw Raw
130916_Ines_iTRAQ_2RAWs.msf Msf
170816_iTRAQ_Ines.raw Raw
Items per page:
1 - 3 of 3
altmetric image

Publications


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 pathobiology of GSDV is still not fully understood, especially with regard to some features such as persistent muscle damage (i.e., even without prior exercise). We aimed at identifying potential muscle protein biomar  ...[more]

Similar Datasets

2023-10-24 | PXD038109 | Pride
2023-10-24 | PXD038108 | Pride
2021-09-08 | PXD013901 | Pride
2021-09-08 | PXD013878 | Pride
2021-09-08 | PXD013880 | Pride
2021-09-08 | PXD013882 | Pride
2021-09-08 | PXD013876 | Pride
2021-09-08 | PXD013875 | Pride
2019-10-08 | PXD014255 | Pride
2020-08-14 | PXD015680 | Pride