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

Zhang, Weihe; Dong, Mingrui; Dong, Hong-rui; Wang, Wei; Sun, Weiliang; Hao, Ying; Jiao, Yujuan; Cui, Lei; Jiao, Jinsong

doi:10.1016/j.jneuroim.2019.577121

Cited by 3 publications

(2 citation statements)

References 24 publications

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“…From a clinical perspective, it is important to highlight the pathology presented by patients with neuromyelitis optica (NMO), which is an autoimmune inflammatory disorder characterized by recurring neuritis of the optic nerve [ 135 ]. NMO patients produce autoantibodies against AQP4 (AQP4-IgG), leading to reduced AQP4 levels.…”

Section: Discussionmentioning

confidence: 99%

Assessing the Role of Aquaporin 4 in Skeletal Muscle Function

Aslesh

Al-aghbari

Yokota

2023

IJMS

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Water transport across the biological membranes is mediated by aquaporins (AQPs). AQP4 and AQP1 are the predominantly expressed AQPs in the skeletal muscle. Since the discovery of AQP4, several studies have highlighted reduced AQP4 levels in Duchenne muscular dystrophy (DMD) patients and mouse models, and other neuromuscular disorders (NMDs) such as sarcoglycanopathies and dysferlinopathies. AQP4 loss is attributed to the destabilizing dystrophin-associated protein complex (DAPC) in DMD leading to compromised water permeability in the skeletal muscle fibers. However, AQP4 knockout (KO) mice appear phenotypically normal. AQP4 ablation does not impair physical activity in mice but limits them from achieving the performance demonstrated by wild-type mice. AQP1 levels were found to be upregulated in DMD models and are thought to compensate for AQP4 loss. Several groups investigated the expression of other AQPs in the skeletal muscle; however, these findings remain controversial. In this review, we summarize the role of AQP4 with respect to skeletal muscle function and findings in NMDs as well as the implications from a clinical perspective

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Section: Discussionmentioning

confidence: 99%

Assessing the Role of Aquaporin 4 in Skeletal Muscle Function

Aslesh

Al-aghbari

Yokota

2023

IJMS

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“…Muscle biopsy studies have shown that AQP4 expression is significantly reduced in patients with NMOSD, [37] a potentially useful diagnostic tool that may hint at a clinically relevant correlation between NMOSD and potential effects in muscular tissues that is not yet fully understood. This is particularly important in light of the fact that only AQP1 and AQP4 are expressed in skeletal muscle tissue; [38] yet AQP1 does not appear to take on a compensatory role in the event of AQP4 loss [35]. One potential explanation for this discrepancy is that there are supramolecular aggregation differences between CNS and muscular AQP4 [39].…”

Section: Muscularmentioning

confidence: 99%

Recontextualizing Neuromyelitis Optica as a Systemic Condition: A Perspective

Webber

Landis

Brooks

2023

JCTO

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Neuromyelitis optica spectrum disorder (NMOSD), a demyelinating CNS disorder in which inflammatory cells infiltrate the spinal cord and optic nerve, has been identified as an AQP4-IgG-positive disease. Some of its most common clinical characteristics are optic neuritis, acute myelitis, area postrema syndrome, and brainstem syndrome. However, the relationship between aquaporin-4 (AQP4) and NMOSD appears to be involved in pathologies outside of the CNS due to the fact that autoimmune, muscular, and paraneoplastic syndromes are more common in patients with NMOSD. This perspective presents an analysis of the current literature on neuromyelitis optica in an effort to further understand and compile pathologies that arise outside of the CNS secondary to NMOSD. Recontextualizing neuromyelitis optica as a systemic condition will facilitate greater diagnostic ability and improved treatment approaches.

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