AUTHOR=Setlere Signe , Schiemer Theresa , Vaska Annija , Gailite Linda , Rots Dmitrijs , Kenina Viktorija , Klavins Kristaps 

TITLE=Metabolomics insights into Charcot–Marie–Tooth disease: toward biomarker discovery

JOURNAL=Frontiers in Neurology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2025.1543547

DOI=10.3389/fneur.2025.1543547

ISSN=1664-2295

ABSTRACT=IntroductionCharcot–Marie–Tooth disease (CMT) is a group of rare neuropathies but still the most common hereditary neuromuscular disorder with heterogeneous phenotype and usually slow progression. Currently, there are no approved treatments or validated biomarkers for sensitive monitoring of disease progression.ObjectivesThis study aimed to analyse selected plasma metabolite concentrations in a CMT cohort and compare them to healthy controls. For this purpose, 84 patients and 34 controls were enrolled in the study.ResultsWe detected a total of 33 metabolites from which acetylcarnitine was found elevated and glycine was found decreased in CMT patients. In addition, the CMTX1 subgroup has decreased valine levels compared to controls. However, further analysis revealed poor disease predictive abilities of the detected metabolites for any CMT group. Furthermore, we found no associations of these metabolites with CMT severity.ConclusionOur study data provide information about plasma metabolite levels in CMT patients. However, these findings suggest that the metabolites mentioned above might be unspecific biomarkers of neuropathy and do not reflect disease severity.