Reduced sarcolemmal aquaporin 4 expression can support the differential diagnosis of neuromyelitis optica spectrum disorders

J Neuroimmunol. 2020 Feb 15:339:577121. doi: 10.1016/j.jneuroim.2019.577121. Epub 2019 Nov 25.

Abstract

This study aimed to investigate the underlying pathological muscle damage in neuromyelitis optica spectrum disorder (NMOSD) patients without muscular symptoms. We prospectively enrolled 15 patients with aquaporin 4 (AQP4) antibody seropositive NMOSD and 16 patients with non-NMOSD diseases as a control group. Biceps biopsy samples from 18 patients were examined. Six NMOSD patients exhibited inflammatory lesions/edema in lower muscles on muscle MRI. On histopathological examination, NMOSD samples showed significantly decreased IgG-targeting AQP4 expression on sarcolemma compared with non-NMOSD samples in terms of the area of positive staining and integrated optical density. Muscle biopsy can support the differential diagnosis of NMOSD.

Keywords: Aquaporin 4; Immunohistochemical staining; Neuromyelitis optica spectrum disorders; Pathology; Skeletal muscle.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aquaporin 4 / biosynthesis
  • Aquaporin 4 / blood*
  • Aquaporin 4 / genetics
  • Diagnosis, Differential
  • Female
  • Gene Expression
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / metabolism
  • Neuromyelitis Optica / blood*
  • Neuromyelitis Optica / diagnostic imaging*
  • Neuromyelitis Optica / genetics
  • Prospective Studies
  • Sarcolemma / genetics
  • Sarcolemma / metabolism*

Substances

  • AQP4 protein, human
  • Aquaporin 4