An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.

Autor: Hubregtse L; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Bouman K; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Lama C; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France., Lassche S; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., de Graaf N; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Taglietti V; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France., Küsters B; Department of Pathology, Radboud university medical center, Nijmegen, the Netherlands., Periou B; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France., Relaix F; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France., van Engelen B; Department of Pathology, Radboud university medical center, Nijmegen, the Netherlands., Authier FJ; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France., Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Malfatti E; Université Paris Est Créteil, INSERM, U955, IMRB, Créteil F-94010, France; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France. Electronic address: edoardo.malfatti@aphp.fr.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Mar; Vol. 36, pp. 6-15. Date of Electronic Publication: 2024 Jan 14.
DOI: 10.1016/j.nmd.2024.01.003
Abstrakt: The aim of this study was to identify key routinely used myopathologic biomarkers of FSHD1. Needle muscle biopsies were taken in 34 affected muscles (m. quadriceps femoris (QF), n = 20, m. tibialis anterior (TA), n = 13, m. biceps brachii, n = 1) from 22 patients (age, 53.5 (10) years; M = 12, F = 10). Eleven patients had more than one biopsy (2xQF, n = 1; QF+TA, n = 9; 2xQF+TA, n = 1). Histochemistry, immunoperoxidase, and immunofluorescence stainings were performed and compared to age and muscle type matched muscle specimens of 11 healthy controls. Myopathologic features observed in our FSHD1 cohort were internalized nuclei, type 1 fibre hypertrophy and NADH central clearances/cores. We observed a prominent inflammatory response with MAC deposits, MHC I expression, and muscle regeneration that correlated with the inflammatory score. Our up-to-date characterization of FSHD1 points towards MHC I, MAC, and embryonic Myosin Heavy Chain/muscle regeneration as useful myopathologic readouts of FSHD1.
Competing Interests: Declaration of competing interest None.
(Copyright © 2024. Published by Elsevier B.V.)
Databáze: MEDLINE
Externí odkaz: