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.
Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Harleen
H
Saini
Gregory
G
Fernandez
Douglas
D
Kerr
Michael
M
Levy
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