title: Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation.
abstract: Proteomic techniques offer insights into the molecular perturbations occurring in muscular-dystrophies (MD). Revisiting published datasets can highlight conserved downstream molecular alterations, which may be worth re-assessing to determine whether their experimental manipulation is capable of modulating disease severity.
  
  
  
  Here, we review the MD literature, highlighting conserved molecular insights warranting mechanistic investigation for therapeutic potential. We also describe a workflow currently proving effective for efficient identification of biomarkers & therapeutic targets in other neurodegenerative conditions, upon which future MD proteomic investigations could be modelled. Expert commentary: Studying disease models can be useful for identifying biomarkers and model specific degenerative cascades, but rarely offer translatable mechanistic insights into disease pathology. Conversely, direct analysis of human samples undergoing degeneration presents challenges derived from complex chronic degenerative molecular processes. This requires a carefully planed & reproducible experimental paradigm accounting for patient selection through to grouping by disease severity and ending with proteomic data filtering and processing.
authors.affiliation: a Wolfson Centre for Inherited Neuromuscular Disease , RJAH Orthopaedic Hospital , Oswestry , UK.|b Institute for Science and Technology in Medicine , Keele University , Staffordshire , UK.
authors.forename: Heidi R
authors.initials: HR
authors.lastname: Fuller
authors.affiliation: c Euan MacDonald Centre for Motor Neurone Disease Research , University of Edinburgh , Edinburgh , UK.|d Division of Neurobiology, The Roslin Institute and Royal (Dick) School of Veterinary Studies , University of Edinburgh , Edinburgh , UK.
authors.forename: Laura C
authors.initials: LC
authors.lastname: Graham
authors.affiliation: c Euan MacDonald Centre for Motor Neurone Disease Research , University of Edinburgh , Edinburgh , UK.|d Division of Neurobiology, The Roslin Institute and Royal (Dick) School of Veterinary Studies , University of Edinburgh , Edinburgh , UK.
authors.forename: Maica
authors.initials: M
authors.lastname: Llavero Hurtado
authors.affiliation: c Euan MacDonald Centre for Motor Neurone Disease Research , University of Edinburgh , Edinburgh , UK.|d Division of Neurobiology, The Roslin Institute and Royal (Dick) School of Veterinary Studies , University of Edinburgh , Edinburgh , UK.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Wishart
mesh_terms: D015415:Biomarkers; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D020543:Proteome / Q000235:genetics*; D040901:Proteomics
chemical_list: D015415:Biomarkers; D020543:Proteome
keywords: Duchenne muscular dystrophy; Emery-Dreifuss; Proteomics; collagen VI myopathies; facioscapulohumeral muscular dystrophy; inherited neuromuscular disease; limb-girdle muscular dystrophy; muscular dystrophy; myotonic dystrophy