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Journal article

Metabolomics reveals distinct, antibody-independent, molecular signatures of MS, AQP4-antibody and MOG-antibody disease.

Abstract:
The overlapping clinical features of relapsing remitting multiple sclerosis (RRMS), aquaporin-4 (AQP4)-antibody (Ab) neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein (MOG)-Ab disease mean that detection of disease specific serum antibodies is the gold standard in diagnostics. However, antibody levels are not prognostic and may become undetectable after treatment or during remission. Therefore, there is still a need to discover antibody-independent biomarkers. We sought to discover whether plasma metabolic profiling could provide biomarkers of these three diseases and explore if the metabolic differences are independent of antibody titre. Plasma samples from 108 patients (34 RRMS, 54 AQP4-Ab NMOSD, and 20 MOG-Ab disease) were analysed by nuclear magnetic resonance spectroscopy followed by lipoprotein profiling. Orthogonal partial-least squares discriminatory analysis (OPLS-DA) was used to identify significant differences in the plasma metabolite concentrations and produce models (mathematical algorithms) capable of identifying these diseases. In all instances, the models were highly discriminatory, with a distinct metabolite pattern identified for each disease. In addition, OPLS-DA identified AQP4-Ab NMOSD patient samples with low/undetectable antibody levels with an accuracy of 92%. The AQP4-Ab NMOSD metabolic profile was characterised by decreased levels of scyllo-inositol and small high density lipoprotein particles along with an increase in large low density lipoprotein particles relative to both RRMS and MOG-Ab disease. RRMS plasma exhibited increased histidine and glucose, along with decreased lactate, alanine, and large high density lipoproteins while MOG-Ab disease plasma was defined by increases in formate and leucine coupled with decreased myo-inositol. Despite overlap in clinical measures in these three diseases, the distinct plasma metabolic patterns support their distinct serological profiles and confirm that these conditions are indeed different at a molecular level. The metabolites identified provide a molecular signature of each condition which is independent of antibody titre and EDSS, with potential use for disease monitoring and diagnosis.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1186/s40478-017-0495-8

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
Role:
Author
ORCID:
0000-0002-8580-2023
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MPLS Division
Department:
Chemistry; Organic Chemistry
Oxford college:
Green Templeton College
Role:
Author
ORCID:
0000-0001-5583-6460


Publisher:
BioMed Central
Journal:
Acta Neuropathologica Communications More from this journal
Volume:
5
Issue:
1
Pages:
95
Publication date:
2017-12-01
Acceptance date:
2017-11-13
DOI:
EISSN:
2051-5960
ISSN:
2051-5960
Pmid:
29208041


Language:
English
Keywords:
Pubs id:
pubs:810338
UUID:
uuid:5d5f5d2f-792f-471a-9879-e8647ad4ee9c
Local pid:
pubs:810338
Source identifiers:
810338
Deposit date:
2018-01-02

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