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

被引：1

作者：

Hubregtse, Lisanne ^{[1
,2
]}

Bouman, Karlijn ^{[2
]}

Lama, Cheryane ^{[1
]}

Lassche, Saskia ^{[2
]}

de Graaf, Nicolas ^{[2
]}

Taglietti, Valentina ^{[1
]}

Kusters, Benno ^{[3
]}

Periou, Baptiste ^{[1
]}

Relaix, Frederic ^{[1
]}

van Engelen, Baziel ^{[3
]}

Authier, Frankois-Jerome ^{[1
,4
]}

Voermans, Nicol C. ^{[2
]}

Malfatti, Edoardo ^{[1
,4
,5
]}

机构：

[1] Univ Paris Est Creteil, INSERM, U955, IMRB, F-94010 Creteil, France

[2] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Dept Pathol, Med Ctr, Nijmegen, Netherlands

[4] APHP Henri Mondor Univ Hosp, Reference Ctr Neuromuscular Disorders, Creteil, France

[5] Univ Paris Est, Henri Mondor Hosp, APHP, U955 INSERM,Ctr Reference Pathol Neuromusculaire N, Creteil, Ile De France, France

来源：

NEUROMUSCULAR DISORDERS | 2024年 / 36卷

关键词：

Muscle biopsies; Myopathology; Inflammation; Muscular regeneration; EXPRESSION; FSHD; GENE; MYOPATHIES; MYOBLASTS; FIBERS; CELLS; CD59;

D O I：

10.1016/j.nmd.2024.01.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (c) 2024 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )

引用

页码：6 / 15

页数：10

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