Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies.

Autor: Sewry CA; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; Department of Musculoskeletal Histopathology and the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital NHS Trust, Oswestry, SY10 7AG, United Kingdom; Department of Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance NHS Group, Stott Lane, Salford M6 8HD, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom. Electronic address: c.sewry@imperial.ac.uk., Feng L; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom., Chambers D; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom; The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health 30 Guildford Street, London, WC1N 1EH, United Kingdom., Matthews E; Atkinson-Morley Neuromuscular Centre, Department of Neurology, St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, United Kingdom; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom., Phadke R; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 371-384. Date of Electronic Publication: 2021 Feb 12.
DOI: 10.1016/j.nmd.2021.02.007
Abstrakt: Our retrospective immunohistochemical study of normal quadriceps muscle biopsies shows that embryonic myosin heavy chains are down-regulated by, or soon after, birth. Fetal myosin heavy chains are down-regulated by 4-6 months. Thus the presence of an appreciable number of fibres with embryonic myosin heavy chains at birth or of fetal myosin heavy chains after 6 months of age suggests a delay in maturation or an underlying abnormality. Regenerating fibres in dystrophic muscle often co-express both embryonic and fetal myosin heavy chains but more fibres with fetal than embryonic myosin heavy chains can occur. Embryonic myosin heavy chains are a useful marker of regeneration but effects of denervation, stress, disuse, and fibre maintenance also have to be taken into account. In neurogenic disorders fibres with embryonic myosin heavy chains are rare but fetal myosin heavy chain expression is common, particularly in 5q spinal muscle atrophy. Nuclear clumps in denervated muscle show fetal and sometimes embryonic myosin heavy chains. Developmentally regulated myosins are useful for highlighting the perifascicular atrophy in juvenile dermatomyositis. Our studies highlight the importance of baseline data for embryonic and fetal myosin heavy chains in human muscle biopsies and the importance of assessing them in a spectrum of neuromuscular disorders.
Competing Interests: Declaration of Competing Interest This work has not been submitted for publication elsewhere and the authors have no conflicts of interests. All authors have approved the manuscript
(Copyright © 2021. Published by Elsevier B.V.)
Databáze: MEDLINE
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