Ontology highlight
ABSTRACT: Objectives
Rippling muscle disease (RMD) is characterized by muscle stiffness, muscle hypertrophy, and rippling muscle induced by stretching or percussion. Hereditary RMD is due to sequence variants in the CAV3 and PTRF/CAVIN1 genes encoding Caveolin-3 or Cavin-1, respectively; a few series of patients with acquired autoimmune forms of RMD (iRMD) associated with AChR antibody-positive myasthenia gravis and/or thymoma have also been described. Recently, MURC/caveolae-associated protein 4 (Cavin-4) autoantibody was identified in 8 of 10 patients without thymoma, highlighting its potential both as a biomarker and as a triggering agent of this pathology. Here, we report the case of a patient with iRMD-AchR antibody negative associated with thymoma.Methods
We suspected a paraneoplastic origin and investigated the presence of specific autoantibodies targeting muscle antigens through a combination of Western blotting and affinity purification coupled with mass spectrometry-based proteomic approaches.Results
We identified circulating MURC/Cavin-4 autoantibodies and found strong similarities between histologic features of the patient's muscle and those commonly reported in caveolinopathies. Strikingly, MURC/Cavin-4 autoantibody titer strongly decreased after tumor resection and immunotherapy correlating with complete disappearance of the rippling phenotype and full patient remission.Discussion
MURC/Cavin-4 autoantibodies may play a pathogenic role in paraneoplastic iRMD associated with thymoma.
SUBMITTER: Svahn J
PROVIDER: S-EPMC9756388 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Svahn Juliette J Coudert Laurent L Streichenberger Nathalie N Kraut Alexandra A Gravier-Dumonceau-Mazelier Alice A Rotard Ludivine L Calemard-Michel Laurence L Menassa Rita R Errazuriz-Cerda Elisabeth E Chalabreysse Lara L Osseni Alexis A Vial Christophe C Jomir Laurentiu L Tronc François F Le Duy Do D Bernard Emilien E Gache Vincent V Couté Yohann Y Jacquemond Vincent V Schaeffer Laurent L Leblanc Pascal P
Neurology(R) neuroimmunology & neuroinflammation 20221215 1
<h4>Objectives</h4>Rippling muscle disease (RMD) is characterized by muscle stiffness, muscle hypertrophy, and rippling muscle induced by stretching or percussion. Hereditary RMD is due to sequence variants in the <i>CAV3</i> and <i>PTRF/CAVIN1</i> genes encoding Caveolin-3 or Cavin-1, respectively; a few series of patients with acquired autoimmune forms of RMD (iRMD) associated with AChR antibody-positive myasthenia gravis and/or thymoma have also been described. Recently, MURC/caveolae-associa ...[more]