Heidi Fuller h.r.fuller@keele.ac.uk
Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation
Fuller, H; Graham, LC; Llavero Hurtado, M; Wishart, TM
Authors
LC Graham
M Llavero Hurtado
TM Wishart
Abstract
Introduction: 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.
Areas covered: 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.
Citation
Fuller, H., Graham, L., Llavero Hurtado, M., & Wishart, T. (2016). Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation. Expert Review of Proteomics, 659-671. https://doi.org/10.1080/14789450.2016.1202768
Acceptance Date | Jun 14, 2016 |
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Publication Date | Jul 5, 2016 |
Journal | Expert Review of Proteomics |
Print ISSN | 1478-9450 |
Publisher | Taylor and Francis |
Pages | 659-671 |
DOI | https://doi.org/10.1080/14789450.2016.1202768 |
Keywords | proteomics; muscular dystrophy; inherited neuromuscular disease; Duchenne muscular dystrophy; myotonic dystrophy; facioscapulohumeral muscular dystrophy; limb-girdle muscular dystrophy; Emery-Dreifuss; collagen VI myopathies |
Publisher URL | https://doi.org/10.1080/14789450.2016.1202768 |
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Publisher Licence URL
https://creativecommons.org/licenses/by/4.0/
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