Pretkalnina Dace, Kenina Elizabete, Gailite Linda, Rots Dmitrijs, Blennow Kaj, Zetterberg Henrik, Kenina Viktorija
Department of Neurology and Neurosurgery, Children's Clinical University Hospital, Riga, Latvia.
Department of Doctoral Studies, Riga Stradins University, Riga, Latvia.
Front Neurol. 2025 Jan 15;15:1490024. doi: 10.3389/fneur.2024.1490024. eCollection 2024.
Charcot-Marie-Tooth disease (CMT), a slowly advancing hereditary nerve disorder, presents a significant challenge in the medical field. Effective drugs for treatment are lacking, and we struggle to find sensitive markers to track the disease's severity and progression. In this study, our objective was to investigate the levels of neurofilament light chain (NfL), glial fibrillary acid protein (GFAP), fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) in individuals with CMT and to compare them to a control group. Our primary goal is to determine whether these biomarker levels are related to the severity of the disease.
Initially, 44 patients with CMT and 44 controls participated in this study. CMT diagnosis was approved by genetic testing. Disease severity was assessed through clinical evaluations using the CMT Neuropathy Score version 2 (CMTNSv2). NfL and GFAP concentrations were measured using Single molecule array, while FGF-21 and GDF-15 concentrations were measured by enzyme-linked immunosorbent assays.
In the group of patients with CMT, the concentrations of GDF15, FGF21, NfL, and GFAP were significantly higher than in the control group ( < 0.05). NfL and GFAP levels were correlated with the CMTNSv2 score (rs = 0.46, = 0.002; rs = 0.31, = 0.04).
Our study has provided confirmation that plasma concentrations of NfL, GFAP, GDF15, and FGF21 are significantly elevated in patients with CMT compared to controls. Furthermore, NfL and GFAP levels were correlated with the clinical severity of CMT. These findings suggest that NfL and GFAP can be reliable disease indicators in future research.
夏科-马里-图斯病（CMT）是一种进展缓慢的遗传性神经疾病，给医学领域带来了重大挑战。目前缺乏有效的治疗药物，且难以找到敏感的标志物来追踪疾病的严重程度和进展情况。在本研究中，我们的目的是调查CMT患者神经丝轻链（NfL）、胶质纤维酸性蛋白（GFAP）、成纤维细胞生长因子21（FGF-21）和生长分化因子15（GDF-15）的水平，并与对照组进行比较。我们的主要目标是确定这些生物标志物水平是否与疾病严重程度相关。
最初，44例CMT患者和44名对照参与了本研究。CMT诊断通过基因检测得以证实。使用CMT神经病变评分第2版（CMTNSv2）通过临床评估来评估疾病严重程度。使用单分子阵列测量NfL和GFAP浓度，而通过酶联免疫吸附测定法测量FGF-21和GDF-15浓度。
在CMT患者组中，GDF15、FGF21、NfL和GFAP的浓度显著高于对照组（<0.05）。NfL和GFAP水平与CMTNSv2评分相关（rs = 0.46， = 0.002；rs = 0.31， = 0.04）。
我们的研究证实，与对照组相比，CMT患者血浆中NfL、GFAP、GDF15和FGF21的浓度显著升高。此外，NfL和GFAP水平与CMT的临床严重程度相关。这些发现表明，在未来的研究中，NfL和GFAP可以作为可靠的疾病指标。
