Neurofilament light is a novel biomarker for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a complicated maternally inherited disorder lacking of sensitive and specific biomarkers. The objective of this study was to investigate the serum neurofilament light chain (NfL) as a novel biomarker of neurologica...

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Bibliographic Details
Published in:Scientific reports 2021-01, Vol.11 (1), p.2001-2001, Article 2001
Main Authors: Zheng, Yong-Sheng, Sun, Chong, Wang, Rong, Chen, Ne, Luo, Su-Shan, Xi, Jian-Ying, Lu, Jia-Hong, Zhao, Chong-Bo, Li, Yu-Xin, Zhou, Lei, Lin, Jie
Format: Article
Language:English
Subjects:
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Acidosis
Biomarkers
Cognition
Functional magnetic resonance imaging
Humanities and Social Sciences
Lactic acidosis
MELAS syndrome
Mitochondria
multidisciplinary
Neurological complications
Remission
Science
Science (multidisciplinary)
Stroke
Stroke-like episodes
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Summary:Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a complicated maternally inherited disorder lacking of sensitive and specific biomarkers. The objective of this study was to investigate the serum neurofilament light chain (NfL) as a novel biomarker of neurological dysfunction in MELAS. Patients with different status of MELAS were enrolled in this study. The Mini-Mental State Examination (MMSE) was given to the participants to evaluate cognition status. Multiple functional MRI was performed on the participants. Blood samples were collected and the serum NfL concentrations were determined by the single-molecule array technology (Simoa). This study enrolled 23 patients with MELAS, 15 people in the acute attack phase of MELAS and 10 people in the remission phase, including 2 patients in both acute attack and remission phase. Sixteen healthy controls (HCs) were also enrolled. Serum NfL level increased significantly in patients with MELAS. Serum NfL level in the acute attack group (146.73 [120.91–411.31] pg/ml, median [IQR]) was higher than in the remission group (40.31 [19.54–151.05] pg/ml, median [IQR]) and HCs group (7.70 [6.13–9.78] pg/ml, median [IQR]) (p 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-021-81721-7