Setlere Signe, Schiemer Theresa, Vaska Annija, Gailite Linda, Rots Dmitrijs, Kenina Viktorija, Klavins Kristaps
Department of Neurology and Neurosurgery, Children's Clinical University Hospital, Riga, Latvia.
Department of Doctoral Studies, Riga Stradins University, Riga, Latvia.
Front Neurol. 2025 May 19;16:1543547. doi: 10.3389/fneur.2025.1543547. eCollection 2025.
Charcot-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.
This 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.
We 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.
Our 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.
夏科-马里-图斯病（CMT）是一组罕见的神经病变，但仍是最常见的遗传性神经肌肉疾病，具有异质性表型，通常进展缓慢。目前，尚无获批的治疗方法或经过验证的生物标志物用于敏感监测疾病进展。
本研究旨在分析CMT队列中选定的血浆代谢物浓度，并将其与健康对照进行比较。为此，84例患者和34例对照纳入本研究。
我们共检测到33种代谢物，其中CMT患者的乙酰肉碱升高，甘氨酸降低。此外，与对照组相比，CMTX1亚组的缬氨酸水平降低。然而，进一步分析显示，所检测的代谢物对任何CMT组的疾病预测能力较差。此外，我们未发现这些代谢物与CMT严重程度之间存在关联。
我们的研究数据提供了有关CMT患者血浆代谢物水平的信息。然而，这些发现表明，上述代谢物可能是神经病变的非特异性生物标志物，并不反映疾病严重程度。
