Publication:
Histopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkers

Simple item page
dc.contributor.authorZweyer, Margit
dc.contributor.authorSabir, Hemmen
dc.contributor.authorDowling, Paul
dc.contributor.authorGargan, Stephen
dc.contributor.authorMurphy, Sandra
dc.contributor.authorSwandulla, Dieter
dc.contributor.authorOhlendieck, Kay
dc.date.accessioned2023-02-08T09:15:04Z
dc.date.available2023-02-08T09:15:04Z
dc.date.issued2022
dc.description.abstractDuchenne muscular dystrophy is an inherited disorder of early childhood that affects multiple systems in the body. Besides late-onset cardio-respiratory syndrome and various body-wide pathophysiological changes, X-linked muscular dystrophy is primarily classified as a disorder of the skeletal musculature. This is reflected by severe histopathological alterations in voluntary contractile tissues, including progressive fibre degeneration, fat substitution, reactive myofibrosis and chronic inflammation. The underlying cause for dystrophinopathy are genetic abnormalities in the DMD gene, which can result in the almost complete loss of the membrane cytoskeletal protein dystrophin, which triggers the collapse of the dystrophin-associated glycoprotein complex and disintegration of sarcolemmal integrity. This in turn results in an increased frequency of membrane micro-rupturing and abnormal calcium ion fluxes through the impaired plasmalemma, which renders muscle fibres more susceptible to enhanced proteolytic degradation and necrosis. This review focuses on the complexity of skeletal muscle changes in X-linked muscular dystrophy and outlines cell biological and histological alterations in correlation to proteomewide variations as judged by mass spectrometric analyses. This includes a general outline of sample handling, subcellular fraction protocols and modern proteomic approaches using gel electrophoretic and liquid chromatographic methods for efficient protein separation prior to mass spectrometry. The proteomic profiling of the dystrophic and highly fibrotic diaphragm muscle is described as an example to swiftly identify novel proteomic markers of complex histopathological changes during skeletal muscle degeneration. The potential usefulness of new protein markers is examined in relation to key histopathological hallmarks for establishing improved diagnostic, prognostic and therapy-monitoring approaches in the field of dystrophinopathy.es
dc.formatapplication/pdfes
dc.format.extent16es
dc.identifier.doihttps://doi.org/10.14670/HH-18-403
dc.identifier.eisbnHistology and Histopathology Vol. 37, nº2 (2022)es
dc.identifier.issn0213-3911
dc.identifier.issn1699-5848
dc.identifier.urihttp://hdl.handle.net/10201/128264
dc.languageenges
dc.publisherUniversidad de Murcia, Departamento de Biologia Celular e Histiologiaes
dc.relationSin financiación externa a la Universidades
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectDystrophinopathyes
dc.subjectFibrosises
dc.subjectInflammationes
dc.subjectMass spectrometryes
dc.subjectMuscle degenerationes
dc.subjectSkeletal musclees
dc.subject.otherCDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncologíaes
dc.titleHistopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkerses
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Zweyer-37-101-116-2022.pdf
Size:
8.21 MB
Format:
Adobe Portable Document Format
Description:
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
1.39 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Histology and histopathology Vol.37, nº2 (2022)