Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation

Heidi R Fuller, Laura Graham, Maica Llavero Hurtado, Thomas Wishart

Research output: Contribution to journalLiterature reviewpeer-review


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-visiting to determine whether their experimental manipulation is capable of modulating disease severity. 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. 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.
Original languageEnglish
Pages (from-to)659-671
JournalExpert review of proteomics
Issue number7
Early online date22 Jun 2016
Publication statusE-pub ahead of print - 22 Jun 2016


  • Proteomics
  • muscular dystrophy
  • inherited neuromuscular disease
  • Duchenne muscular dystrophy
  • myotonic dystrophy
  • facioscapulohumeral muscular dystrophy
  • limb-girdle muscular dystrophy
  • Emery-Dreifuss
  • collagen VI myopathies


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