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血清生物标志物与磁共振波谱在监测线粒体脑肌病伴乳酸酸中毒及卒中样发作(由线粒体DNA A3243G突变引起)患者疾病进展中的相关性

Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation.

作者信息

Lee Ha Neul, Yoon Choon-Sik, Lee Young-Mock

机构信息

Department of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea.

Department of Diagnostic Radiology, Yonsei University College of Medicine, Seoul, South Korea.

出版信息

Front Neurol. 2018 Jul 27;9:621. doi: 10.3389/fneur.2018.00621. eCollection 2018.

DOI:10.3389/fneur.2018.00621
PMID:30140253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6094978/
Abstract

Analysis of serum biomarkers and magnetic resonance spectroscopy (MRS) are useful for monitoring disease progression in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). We evaluated the correlation of serum biomarkers and MRS parameters during changes associated with stroke-like episodes. In 13 symptomatic MELAS patients carrying the A3243G mutation, we retrospectively obtained 207 voxels from 41 MRS studies, which were divided into three groups according to the temporal association with stroke-like episodes. The MRS NAA/Cr, Cho/Cr, NAA/Cho ratios, the presence of a lactate peak, serum biomarkers, serum lactate level and the pyruvate (Lac/Pyr) ratio were determined. In regions with acute infarcts, the severity of serum Lac/Pyr and that of the MRS lactate peak ( = 0.0007) correlated; serum lactate ( = 0.02), severity of elevated serum lactate ( = 0.04), and serum Lac/Pyr ( = 0.02) correlated weakly. In previously infarcted regions, the severity of the MRS lactate peak and serum Lac/Pyr ( = 0.03), as well as the severity of serum Lac/Pyr ( = 0.02) were weakly correlated. In structurally normal regions, we found a weak to moderate negative correlation between serum lactate and MRS NAA/Cr ( = 0.008), and between the severity of elevated serum lactate and MRS NAA/Cr ( = 0.002) as well as MRS NAA/Cho ( = 0.02). MRS parameters correlate with specific serum biomarkers, and are useful for monitoring changes in brain metabolites, particularly as related to stroke-like episodes.

摘要

血清生物标志物分析和磁共振波谱(MRS)有助于监测线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)患者的疾病进展。我们评估了卒中样发作相关变化期间血清生物标志物与MRS参数的相关性。在13例携带A3243G突变的有症状MELAS患者中,我们回顾性地从41项MRS研究中获取了207个体素,根据与卒中样发作的时间关联将其分为三组。测定了MRS的NAA/Cr、Cho/Cr、NAA/Cho比值、乳酸峰的存在情况、血清生物标志物、血清乳酸水平和丙酮酸(Lac/Pyr)比值。在急性梗死区域,血清Lac/Pyr的严重程度与MRS乳酸峰的严重程度相关(=0.0007);血清乳酸(=0.02)、血清乳酸升高的严重程度(=0.04)和血清Lac/Pyr(=0.02)呈弱相关。在既往梗死区域,MRS乳酸峰的严重程度与血清Lac/Pyr(=0.03)以及血清Lac/Pyr的严重程度(=0.02)呈弱相关。在结构正常区域,我们发现血清乳酸与MRS NAA/Cr(=0.008)之间、血清乳酸升高的严重程度与MRS NAA/Cr(=0.002)以及MRS NAA/Cho(=0.02)之间存在弱至中度负相关。MRS参数与特定的血清生物标志物相关,有助于监测脑代谢物的变化,特别是与卒中样发作相关的变化。

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本文引用的文献

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Pediatr Neurol. 2016 Nov;64:59-65. doi: 10.1016/j.pediatrneurol.2016.08.016. Epub 2016 Aug 26.
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Lactate and its many faces.乳酸及其多面性。
Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9.
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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
磁共振波谱法显示的CPEO加综合征患者肌肉中的乳酸峰值。
eNeurologicalSci. 2021 Jul 23;24:100360. doi: 10.1016/j.ensci.2021.100360. eCollection 2021 Sep.
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Topological reorganization of brain functional networks in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.线粒体脑肌病伴高乳酸血症和卒中样发作患者的脑功能网络拓扑重组织。
Neuroimage Clin. 2020;28:102480. doi: 10.1016/j.nicl.2020.102480. Epub 2020 Oct 27.
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Molecular Biomarkers in Multiple Sclerosis and Its Related Disorders: A Critical Review.多发性硬化及其相关疾病的分子生物标志物:批判性综述。
Int J Mol Sci. 2020 Aug 21;21(17):6020. doi: 10.3390/ijms21176020.
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The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS.作者回复:基因数据是解读MELAS临床和肌肉活检结果的先决条件。
Yonsei Med J. 2019 Apr;60(4):401. doi: 10.3349/ymj.2019.60.4.401.
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Initial experiences with proton MR spectroscopy in treatment monitoring of mitochondrial encephalopathy.质子磁共振波谱在治疗监测线粒体脑病中的初步经验。
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