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Acetylcarnitine in cerebrospinal fluid and blood as a protective factor for neuromyelitis optica spectrum disorders: a mendelian randomization study.

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Title: Acetylcarnitine in cerebrospinal fluid and blood as a protective factor for neuromyelitis optica spectrum disorders: a mendelian randomization study.
Authors: Xie, Zhuxiao (AUTHOR), Gai, Feng (AUTHOR), Liu, Lei (AUTHOR), Guo, Yanjun (AUTHOR), Jiang, Hanqiu (AUTHOR), Zhang, Weijiao (AUTHOR), Wang, Jiawei (AUTHOR)
Source: Neurological Sciences. Dec2025, Vol. 46 Issue 12, p6697-6707. 11p.
Subjects: Neuromyelitis optica, Cerebrospinal fluid, Metabolites, Therapeutics, Protective factors, Metabolomics, Mendelian randomization
Abstract: Background: Neuromyelitis Optica Spectrum Disorders (NMOSD) are a group of diseases that can cause vision loss and paralysis. Some patients with refractory NMOSD continue to experience relapses or even disability after existing treatments, so it is crucial to further investigate the targets for precision therapy. The link between cerebrospinal fluid (CSF) and blood metabolites and the pathogenesis of NMOSD remains underexplored. Methods: We conducted a two-sample mendelian randomization (MR) study. Instrumental variables related to 338 CSF metabolites and 486 blood metabolites were extracted from genome-wide association (GWAS) data involved European individuals. A series of sensitivity analyses were applied, including the Cochran Q test, MR-Egger intercept test, MR-PRESSO, and leave-one-out method. Finally, we conducted functional enrichment analysis within MetaboAnalyst 5.0. Results: We identified 20 CSF metabolites and 11 blood metabolites indicated causality with NMOSD. We observed a protective effect of acetylcarnitine within NMOSD, both in CSF (OR = 0.47, P value = 7.088 × 10−6) and blood (OR = 0.02, P value = 0.017). Moreover, functional enrichment analysis identified a set of metabolic pathways potential related to the pathogenesis of NMOSD. Conclusion: This is the first MR analysis to investigate the causality of CSF and blood metabolites in NMOSD. Acetylcarnitine was a protective factor for NMOSD, with a promising prospect for the treatment of refractory NMOSD. Several other key CSF and blood metabolites could also serve as the candidate molecules for exploring mechanisms and potential drug targets. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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DbLabel: Psychology and Behavioral Sciences Collection
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  Label: Title
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  Data: Acetylcarnitine in cerebrospinal fluid and blood as a protective factor for neuromyelitis optica spectrum disorders: a mendelian randomization study.
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  Data: <searchLink fieldCode="AR" term="%22Xie%2C+Zhuxiao%22">Xie, Zhuxiao</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gai%2C+Feng%22">Gai, Feng</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liu%2C+Lei%22">Liu, Lei</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guo%2C+Yanjun%22">Guo, Yanjun</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jiang%2C+Hanqiu%22">Jiang, Hanqiu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Weijiao%22">Zhang, Weijiao</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Jiawei%22">Wang, Jiawei</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Dec2025, Vol. 46 Issue 12, p6697-6707. 11p.
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  Data: <searchLink fieldCode="DE" term="%22Neuromyelitis+optica%22">Neuromyelitis optica</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebrospinal+fluid%22">Cerebrospinal fluid</searchLink><br /><searchLink fieldCode="DE" term="%22Metabolites%22">Metabolites</searchLink><br /><searchLink fieldCode="DE" term="%22Therapeutics%22">Therapeutics</searchLink><br /><searchLink fieldCode="DE" term="%22Protective+factors%22">Protective factors</searchLink><br /><searchLink fieldCode="DE" term="%22Metabolomics%22">Metabolomics</searchLink><br /><searchLink fieldCode="DE" term="%22Mendelian+randomization%22">Mendelian randomization</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Background: Neuromyelitis Optica Spectrum Disorders (NMOSD) are a group of diseases that can cause vision loss and paralysis. Some patients with refractory NMOSD continue to experience relapses or even disability after existing treatments, so it is crucial to further investigate the targets for precision therapy. The link between cerebrospinal fluid (CSF) and blood metabolites and the pathogenesis of NMOSD remains underexplored. Methods: We conducted a two-sample mendelian randomization (MR) study. Instrumental variables related to 338 CSF metabolites and 486 blood metabolites were extracted from genome-wide association (GWAS) data involved European individuals. A series of sensitivity analyses were applied, including the Cochran Q test, MR-Egger intercept test, MR-PRESSO, and leave-one-out method. Finally, we conducted functional enrichment analysis within MetaboAnalyst 5.0. Results: We identified 20 CSF metabolites and 11 blood metabolites indicated causality with NMOSD. We observed a protective effect of acetylcarnitine within NMOSD, both in CSF (OR = 0.47, P value = 7.088 × 10−6) and blood (OR = 0.02, P value = 0.017). Moreover, functional enrichment analysis identified a set of metabolic pathways potential related to the pathogenesis of NMOSD. Conclusion: This is the first MR analysis to investigate the causality of CSF and blood metabolites in NMOSD. Acetylcarnitine was a protective factor for NMOSD, with a promising prospect for the treatment of refractory NMOSD. Several other key CSF and blood metabolites could also serve as the candidate molecules for exploring mechanisms and potential drug targets. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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      – SubjectFull: Metabolites
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      – TitleFull: Acetylcarnitine in cerebrospinal fluid and blood as a protective factor for neuromyelitis optica spectrum disorders: a mendelian randomization study.
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              Text: Dec2025
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