A Metabolomic Study of Cervical Dystonia

Abstract

BackgroundCervical 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.ObjectiveTo conduct an exploratory metabolomics analysis of cervical dystonia to identify potentially abnormal metabolites or altered biological pathways.MethodsPlasma samples from 100 cases with idiopathic cervical dystonia and 100 controls were compared using liquid chromatography coupled with mass spectrometry-based metabolomics.ResultsA total of 7,346 metabolic features remained after quality control, and 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.ConclusionThis 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.

Serum Metabolomics of Benign Essential Blepharospasm Using Liquid Chromatography and Orbitrap Mass Spectrometry

“…In addition, metabolomics has a particular advantage over other technologies including genomics, transcriptomics, and proteomics in that it could provide a global phenotype of metabolic changes. This approach is now being utilized to find evidence of major changes in metabolites such as amino acids, lipids, and neurotransmitters in dystonia-related diseases [11][12][13]. There have been no reports of using metabolomics to uncover pathogenic aspects or diagnostic biomarkers in BEB patients, suggesting that this novel technology must be employed to identify probable biomarkers of BEB as well as explore the disease's pathogenesis and treatment approaches.…”