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Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy
Journal article   Open access   Peer reviewed

Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy

Rolf Turk, Jordy J Hsiao, Melinda M Smits, Brandon H Ng, Tyler C Pospisil, Kayla S Jones, Kevin P Campbell and Michael E Wright
Molecular & cellular proteomics, Vol.15(6), pp.2169-2185
06/2016
DOI: 10.1074/mcp.M116.059188
PMCID: PMC5083101
PMID: 27099343
url
https://doi.org/10.1074/mcp.M116.059188View
Published (Version of record) Open Access

Abstract

Mutations in genes encoding components of the sarcolemmal dystrophin-glycoprotein complex (DGC) are responsible for a large number of muscular dystrophies. As such, molecular dissection of the DGC is expected to both reveal pathological mechanisms, and provides a biological framework for validating new DGC components. Establishment of the molecular composition of plasma-membrane protein complexes has been hampered by a lack of suitable biochemical approaches. Here we present an analytical workflow based upon the principles of protein correlation profiling that has enabled us to model the molecular composition of the DGC in mouse skeletal muscle. We also report our analysis of protein complexes in mice harboring mutations in DGC components. Bioinformatic analyses suggested that cell-adhesion pathways were under the transcriptional control of NFκB in DGC mutant mice, which is a finding that is supported by previous studies that showed NFκB-regulated pathways underlie the pathophysiology of DGC-related muscular dystrophies. Moreover, the bioinformatic analyses suggested that inflammatory and compensatory mechanisms were activated in skeletal muscle of DGC mutant mice. Additionally, this proteomic study provides a molecular framework to refine our understanding of the DGC, identification of protein biomarkers of neuromuscular disease, and pharmacological interrogation of the DGC in adult skeletal muscle https://www.mda.org/disease/congenital-muscular-dystrophy/research.
Animals Muscular Dystrophies - metabolism Dystrophin - genetics Humans Computational Biology Glycoproteins - metabolism Muscle, Skeletal - metabolism Mice Mutation Proteomics - methods Dystrophin - metabolism Protein Interaction Maps

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