Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients
BackgroundCharcot–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 o...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2024.1490024/full |
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| author | Dace Pretkalnina Dace Pretkalnina Dace Pretkalnina Elizabete Kenina Elizabete Kenina Linda Gailite Dmitrijs Rots Dmitrijs Rots Kaj Blennow Kaj Blennow Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Viktorija Kenina Viktorija Kenina Viktorija Kenina |
| author_facet | Dace Pretkalnina Dace Pretkalnina Dace Pretkalnina Elizabete Kenina Elizabete Kenina Linda Gailite Dmitrijs Rots Dmitrijs Rots Kaj Blennow Kaj Blennow Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Viktorija Kenina Viktorija Kenina Viktorija Kenina |
| author_sort | Dace Pretkalnina |
| collection | DOAJ |
| description | BackgroundCharcot–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.MethodsInitially, 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.ResultsIn the group of patients with CMT, the concentrations of GDF15, FGF21, NfL, and GFAP were significantly higher than in the control group (p < 0.05). NfL and GFAP levels were correlated with the CMTNSv2 score (rs = 0.46, p = 0.002; rs = 0.31, p = 0.04).ConclusionOur 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. |
| format | Article |
| id | doaj-art-1beda3ef6eaa490384de39079f6851e7 |
| institution | Kabale University |
| issn | 1664-2295 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Neurology |
| spelling | doaj-art-1beda3ef6eaa490384de39079f6851e72025-01-15T05:10:26ZengFrontiers Media S.A.Frontiers in Neurology1664-22952025-01-011510.3389/fneur.2024.14900241490024Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patientsDace Pretkalnina0Dace Pretkalnina1Dace Pretkalnina2Elizabete Kenina3Elizabete Kenina4Linda Gailite5Dmitrijs Rots6Dmitrijs Rots7Kaj Blennow8Kaj Blennow9Henrik Zetterberg10Henrik Zetterberg11Henrik Zetterberg12Henrik Zetterberg13Henrik Zetterberg14Henrik Zetterberg15Viktorija Kenina16Viktorija Kenina17Viktorija Kenina18Department of Neurology and Neurosurgery, Children’s Clinical University Hospital, Riga, LatviaDepartment of Doctoral Studies, Riga Stradins University, Riga, Latvia14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaFaculty of Medicine, Riga Stradins University, Riga, Latvia14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaDepartment of Human Genetics, Radboudumc, Nijmegen, NetherlandsDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, SwedenClinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, SwedenDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, SwedenClinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, SwedenDepartment of Neurodegenerative Disease, UCL Institute of Neurology, London, United KingdomUK Dementia Research Institute at UCL, London, United Kingdom0Hong Kong Center for Neurodegenerative Diseases, Hong Kong, China1Wisconsin Alzheimer’s Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, United States14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia2Department of Biology and Microbiology, Riga Stradins University, Riga, Latvia3Rare Neurological Disease Centre, Pauls Stradiņš Clinical University Hospital, Riga, LatviaBackgroundCharcot–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.MethodsInitially, 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.ResultsIn the group of patients with CMT, the concentrations of GDF15, FGF21, NfL, and GFAP were significantly higher than in the control group (p < 0.05). NfL and GFAP levels were correlated with the CMTNSv2 score (rs = 0.46, p = 0.002; rs = 0.31, p = 0.04).ConclusionOur 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.https://www.frontiersin.org/articles/10.3389/fneur.2024.1490024/fullCMTbiomarkerNFLFGF21GFAP - glial fibrillary acidic proteinGDF15 |
| spellingShingle | Dace Pretkalnina Dace Pretkalnina Dace Pretkalnina Elizabete Kenina Elizabete Kenina Linda Gailite Dmitrijs Rots Dmitrijs Rots Kaj Blennow Kaj Blennow Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Henrik Zetterberg Viktorija Kenina Viktorija Kenina Viktorija Kenina Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients Frontiers in Neurology CMT biomarker NFL FGF21 GFAP - glial fibrillary acidic protein GDF15 |
| title | Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients |
| title_full | Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients |
| title_fullStr | Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients |
| title_full_unstemmed | Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients |
| title_short | Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients |
| title_sort | evaluating plasma biomarkers nfl gfap gdf15 and fgf21 as indicators of disease severity in charcot marie tooth patients |
| topic | CMT biomarker NFL FGF21 GFAP - glial fibrillary acidic protein GDF15 |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2024.1490024/full |
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