A metabolomic study of cervical dystonia

Chang Liu¹, Laura Scorr², Gamze Kilic-Berkmen³, Adam Cotton⁴, Stewart A Factor⁵, Alan Freeman⁶, ViLinh Tran⁷, Ken Liu⁸, Karan Uppal⁹, Dean Jones¹⁰, H A Jinnah¹¹, Yan V Sun¹²

Affiliations

¹ Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA. Electronic address: chang.liu2@emory.edu.
² Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: laura.m.scorr@emory.edu.
³ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: gamze.kilic.berkmen@emory.edu.
⁴ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: akassem@emory.edu.
⁵ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: sfactor@emory.edu.
⁶ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: afreema@emory.edu.
⁷ Clinical Biomarkers Laboratory, Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: vilinh.tran@emory.edu.
⁸ Clinical Biomarkers Laboratory, Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: ken.liu@emory.edu.
⁹ Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: kuppal2@emory.edu.
¹⁰ Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: dpjones@emory.edu.
¹¹ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: hjinnah@emory.edu.
¹² Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA; Department of Biomedical Informatics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: yan.v.sun@emory.edu.

PMID: 33271463
PMCID: PMC7856090
DOI: 10.1016/j.parkreldis.2020.11.020

A metabolomic study of cervical dystonia

Chang Liu et al. Parkinsonism Relat Disord. 2021 Jan.

. 2021 Jan:82:98-103.

doi: 10.1016/j.parkreldis.2020.11.020. Epub 2020 Nov 26.

Authors

Chang Liu¹, Laura Scorr², Gamze Kilic-Berkmen³, Adam Cotton⁴, Stewart A Factor⁵, Alan Freeman⁶, ViLinh Tran⁷, Ken Liu⁸, Karan Uppal⁹, Dean Jones¹⁰, H A Jinnah¹¹, Yan V Sun¹²

Affiliations

¹ Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA. Electronic address: chang.liu2@emory.edu.
² Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: laura.m.scorr@emory.edu.
³ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: gamze.kilic.berkmen@emory.edu.
⁴ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: akassem@emory.edu.
⁵ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: sfactor@emory.edu.
⁶ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: afreema@emory.edu.
⁷ Clinical Biomarkers Laboratory, Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: vilinh.tran@emory.edu.
⁸ Clinical Biomarkers Laboratory, Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: ken.liu@emory.edu.
⁹ Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: kuppal2@emory.edu.
¹⁰ Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: dpjones@emory.edu.
¹¹ Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: hjinnah@emory.edu.
¹² Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA; Department of Biomedical Informatics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: yan.v.sun@emory.edu.

PMID: 33271463
PMCID: PMC7856090
DOI: 10.1016/j.parkreldis.2020.11.020

Abstract

Introduction: Cervical dystonia is the most common of the adult-onset focal dystonias. Most cases are idiopathic. The current view is that cervical dystonia may be caused by some combination of genetic and environmental factors. Genetic contributions have been studied extensively, but there are few studies of other factors. We conducted an exploratory metabolomics analysis of cervical dystonia to identify potentially abnormal metabolites or altered biological pathways.

Methods: Plasma samples from 100 cases with idiopathic cervical dystonia and 100 controls were compared using liquid chromatography coupled with mass spectrometry-based metabolomics.

Results: A total of 7346 metabolic features remained after quality control, and up to 289 demonstrated significant differences between cases and controls, depending on statistical criteria chosen. Pathway analysis revealed 9 biological processes to be significantly associated at p < 0.05, 5 pathways were related to carbohydrate metabolism, 3 pathways were related to lipid metabolism.

Conclusion: This is the first large scale metabolomics study for any type of dystonia. The results may provide potential novel insights into the biology of cervical dystonia.

Keywords: Cervical dystonia; MWAS; Metabolomics; Torticollis.

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Figures

**Figure 1.**
Volcano plot of the metabolome-wide association study of CD. Total of 7,346 features. Horizontal dashed line indicates p=0.05. 157 features with p<0.05 and OR<1 colored in red; 132 features with p<0.05 and OR>1 colored in blue.

**Figure 2A & 2B.**
Manhattan plot of the metabolome-wide association study of CD. Total of 7,346 features. Dashed line indicates p=0.05. 157 features with p<0.05 and OR<1 colored in red; 132 features with p<0.05 and OR>1 colored in blue.

See this image and copyright information in PMC

References

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A metabolomic study of cervical dystonia

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A metabolomic study of cervical dystonia

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