Potential Role of Antibodies against Aquaporin-1 in Patients with Central Nervous System Demyelination
2023
Maria Pechlivanidou | Konstantina Xenou | Dimitrios Tzanetakos | Emmanuel Koutsos | Christos Stergiou | Elisabeth Andreadou | Konstantinos Voumvourakis | Sotirios Giannopoulos | Constantinos Kilidireas | Erdem Tüzün | Georgios Tsivgoulis | Socrates Tzartos | John Tzartos
Aquaporins (AQPs; AQP0–AQP12) are water channels expressed in many and diverse cell types, participating in various functions of cells, tissues, and systems, including the central nervous system (CNS). AQP dysfunction and autoimmunity to AQPs are implicated in several diseases. The best-known example of autoimmunity against AQPs concerns the antibodies to AQP4 which are involved in the pathogenesis of neuromyelitis optica spectrum disorder (NMOSD), an autoimmune astrocytopathy, causing also CNS demyelination. The present review focuses on the discovery and the potential role of antibodies against AQP1 in the CNS, and their potential involvement in the pathophysiology of NMOSD. We describe (a) the several techniques developed for the detection of the AQP1-antibodies, with emphasis on methods that specifically identify antibodies targeting the extracellular domain of AQP1, i.e., those of potential pathogenic role, and (b) the available evidence supporting the pathogenic relevance of AQP1-antibodies in the NMOSD phenotype.
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