Differential expression of aquaporin-4 isoforms localizes with neuromyelitis optica disease activity.
Neuromyelitis optica (NMO) is a devastating neuroinflammatory disorder that specifically targets the spinal cord and optic nerves. Aquaporin-4 (AQP4) is the target of the NMO-IgG biomarker. AQP4 is expressed as two isoforms: M1 and M23, which have different functions in the central nervous system (CNS). We characterized the expression pattern of these AQP4 isoform mRNAs in humans and found a pattern of AQP4 expression that correlates with NMO disease localization. The ratio of M1:M23 mRNA is highest in the optic nerve and spinal cord, followed by brainstem, then the cerebral and cerebellar cortices.
Saini
Harleen
H
Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Fernandez
Gregory
G
Kerr
Douglas
D
Levy
Michael
M
D051401:Aquaporin 4 / Q000235:genetics / Q000378:metabolism*; D002490:Central Nervous System / Q000378:metabolism* / Q000473:pathology; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009471:Neuromyelitis Optica / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D011180:Postmortem Changes; D020033:Protein Isoforms / Q000145:classification / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism
D051401:Aquaporin 4; D020033:Protein Isoforms; D012333:RNA, Messenger