Development of a cell-based assay for the detection of anti-aquaporin 1 antibodies in neuromyelitis optica spectrum disorders

J Neuroimmunol. 2014 Aug 15;273(1-2):103-10. doi: 10.1016/j.jneuroim.2014.06.003. Epub 2014 Jun 12.

Abstract

Objective: To develop a cell-based assay (CBA) to detect aquaporin 1 (AQP1) antibodies and determine sensitivity/specificity in patients with neuromyelitis optica (NMO) spectrum disorders.

Methods: A HEK-293T transfected cell model expressing AQP1 was established and detected to be serum AQP1 antibodies.

Results: AQP1 antibodies were present in 73/98 (74.5%) AQP4 antibody-positive patients. Some AQP4 antibody-negative patients were also AQP1 antibody-positive. Test sensitivity was 74.5% in 98 AQP4 antibody-positive patients. Test specificity was 79.6% in 67 multiple sclerosis (MS) patients and 31 controls.

Conclusion: A sensitive and simple CBA was developed to detect serum AQP1 antibodies. AQP1 antibodies were mainly present in NMO and its high-risk syndrome, but also in some MS patients.

Keywords: Aquaporin 1 antibody; Cell-based assay; Multiple sclerosis; Neuromyelitis optica.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antibodies* / blood
  • Aquaporin 1 / genetics
  • Aquaporin 1 / immunology*
  • Aquaporin 1 / metabolism
  • Aquaporin 4 / immunology
  • Brain / pathology
  • Child
  • Female
  • HEK293 Cells
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neuromyelitis Optica / diagnosis*
  • Sensitivity and Specificity
  • Transfection
  • Young Adult

Substances

  • Antibodies
  • Aquaporin 4
  • Aquaporin 1