Browse by author
Lookup NU author(s): Dr Sandra Murphy
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.Introduction: Progressive skeletal muscle wasting is the manifesting symptom of Duchenne muscular dystrophy, an X-linked inherited disorder triggered by primary abnormalities in the DMD gene. The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired metabolism and abnormalities in the central nervous system. Areas covered: This review focuses on the mass spectrometry-based proteomic characterization of X-linked muscular dystrophy with special emphasis on the identification of novel biomarker candidates in skeletal muscle tissues, as well as non-muscle tissues and various biofluids. Individual sections focus on molecular and cellular aspects of the pathogenic changes in dystrophinopathy, proteomic workflows used in biomarker research, the proteomics of the dystrophin-glycoprotein complex and the potential usefulness of newly identified protein markers involved in fibre degeneration, fibrosis and inflammation. Expert opinion: The systematic application of large-scale proteomic surveys has identified a distinct cohort of both tissue- and biofluid-associated protein species with considerable potential for improving diagnostic, prognostic and therapy-monitoring procedures. Novel proteomic markers include components involved in fibre contraction, cellular signalling, ion homeostasis, cellular stress response, energy metabolism and the immune response, as well as maintenance of the cytoskeletal and extracellular matrix.
Author(s): Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K
Publication type: Review
Publication status: Published
Journal: Expert Review of Molecular Diagnostics
Year: 2019
Volume: 19
Issue: 8
Pages: 739-755
Online publication date: 30/07/2019
Acceptance date: 23/07/2019
ISSN (print): 1473-7159
ISSN (electronic): 1744-8352
Publisher: Taylor and Francis Ltd
URL: https://doi.org/10.1080/14737159.2019.1648214
DOI: 10.1080/14737159.2019.1648214
PubMed id: 31359811
