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Skeletal Muscle Gender Dimorphism from Proteomics
Published on: December 14, 2011
FSHD myotubes with different phenotypes exhibit distinct proteomes.
Alexandra Tassin1, Baptiste Leroy, Dalila Laoudj-Chenivesse
1Laboratory of Molecular Biology, Research Institute for Health Sciences and Technology, University of Mons, Mons, Belgium.
Plos One
|December 29, 2012
Summary
Facioscapulohumeral muscular dystrophy (FSHD) involves DUX4 gene dysregulation, causing muscle cell defects. Proteomics revealed distinct atrophic and disorganized myotube changes, impacting muscle structure and function.
Area of Science:
- Genetics and Molecular Biology
- Muscle Physiology
- Biochemistry
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy.
- It stems from D4Z4 repeat array contraction, leading to epigenetic changes and DUX4 gene expression.
- DUX4 dysregulates genes, causing myogenic defects, atrophy, and oxidative stress sensitivity.
Purpose of the Study:
- To investigate proteomic alterations in FSHD myotubes.
- To characterize molecular differences between atrophic and disorganized FSHD myotube phenotypes.
- To identify pathways affected by DUX4-mediated gene dysregulation in FSHD.
Main Methods:
- Optimized differential isotope protein labeling (ICPL) with gel-free 2D-LC-MS/MS shotgun proteomics.
- Compared primary FSHD myotubes (atrophic/disorganized) with healthy controls.
- Utilized mass spectrometry-compatible nuclear fractionation.
Main Results:
- Atrophic FSHD myotubes showed reduced structural/contractile proteins (e.g., myosin isoforms) and increased non-muscle myosins, suggesting proteolysis.
- Disorganized FSHD myotubes had normal myosin levels but increased proteins involved in microtubule organization and myofibrillar remodeling.
- Both phenotypes exhibited disturbed caveolar proteins (PTRF, MURC), indicating altered trafficking and membrane microdomains.
- Nuclear proteomic analysis revealed changes in mRNA processing and stability proteins.
Conclusions:
- FSHD myotubes display distinct proteomic profiles correlating with atrophic or disorganized phenotypes.
- DUX4-driven gene dysregulation impacts muscle structure, contractility, and cellular organization.
- Altered protein expression affects muscle-specific functions, membrane trafficking, and RNA metabolism in FSHD.
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