Dowling, Paul and Murphy, Sandra and Zweyer, Margit and Raucamp, Maren and Swandulla, Dieter and Ohlendieck, Kay
(2019)
Emerging proteomic biomarkers of X-linked muscular dystrophy.
Expert Review of Molecular Diagnostics, 19 (8).
pp. 739-755.
ISSN 1473-7159
Abstract
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.
| Item Type: |
Article
|
| Additional Information: |
Cite as: Paul Dowling, Sandra Murphy, Margit Zweyer, Maren Raucamp, Dieter Swandulla & Kay Ohlendieck (2019) Emerging proteomic biomarkers of X-linked muscular dystrophy, Expert Review of Molecular Diagnostics, 19:8, 739-755, DOI: 10.1080/14737159.2019.1648214 |
| Keywords: |
Biofluid; biomarker;
Duchenne muscular
dystrophy;
dystrophinopathy; liquid
biopsy; muscle biopsy; |
| Academic Unit: |
Faculty of Science and Engineering > Biology |
| Item ID: |
13570 |
| Identification Number: |
https://doi.org/10.1080/14737159.2019.1648214 |
| Depositing User: |
Paul Dowling
|
| Date Deposited: |
18 Nov 2020 16:13 |
| Journal or Publication Title: |
Expert Review of Molecular Diagnostics |
| Publisher: |
Taylor and Francis |
| Refereed: |
Yes |
| URI: |
|
| Use Licence: |
This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available
here |
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