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

Fuller, H; Graham, LC; Llavero Hurtado, M; Wishart, TM

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


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.

Acceptance Date Jun 14, 2016
Publication Date Jul 5, 2016
Publicly Available Date Mar 29, 2024
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