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Título: Histopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkers
Fecha de publicación: 2022
Editorial: Universidad de Murcia, Departamento de Biologia Celular e Histiologia
Cita bibliográfica: Histology and Histopathology Vol. 37, nº2 (2022)
ISSN: 0213-3911
Materias relacionadas: CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología
Palabras clave: Dystrophinopathy
Mass spectrometry
Muscle degeneration
Skeletal muscle
Resumen: Duchenne 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.
Autor/es principal/es: Zweyer, Margit
Sabir, Hemmen
Dowling, Paul
Gargan, Stephen
Murphy, Sandra
Swandulla, Dieter
Ohlendieck, Kay
URI: http://hdl.handle.net/10201/128264
DOI: https://doi.org/10.14670/HH-18-403
Tipo de documento: info:eu-repo/semantics/article
Número páginas / Extensión: 16
Derechos: info:eu-repo/semantics/openAccess
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
Aparece en las colecciones:Vol.37, nº2 (2022)

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