将血清神经丝蛋白轻链水平作为遗传性转甲状腺素淀粉样变性病神经元损伤标志物的纵向分析。

IF 5.2 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Milou Berends, Anne F Brunger, Johan Bijzet, Bart-Jan Kroesen, Gea Drost, Fiete Lange, Charlotte E Teunissen, Sjors In 't Veld, Alexander Fje Vrancken, Reinold O B Gans, Bouke P C Hazenberg, Paul A van der Zwaag, Hans L A Nienhuis
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引用次数: 0

摘要

目的评估血清神经丝蛋白轻链(sNfL)作为遗传性转hyretin(ATTRv)淀粉样变性患者和TTR变异体(TTRv)携带者发病、进展和治疗效果的生物标记物的作用。研究方法对持续无症状的TTRv携带者(12人)、持续无症状的ATTRv淀粉样变性患者(定义为无症状但可在腹部皮下脂肪组织中检测到淀粉样蛋白的患者)(8人)的sNfL水平进行纵向评估、出现多发性神经病的TTRv携带者(7人)和接受治疗(TTR稳定剂(20人)或TTR消音器(18人))后出现多发性神经病的ATTRv淀粉样变性患者。多发性神经病由神经传导研究或定量感觉测试证实。结果:在持续无症状的 ATTRv 淀粉样变性患者中,sNfL 在 2 年内有所增加,但在持续无症状的 TTRv 携带者中没有变化。在所有出现多发性神经病变的TTRv携带者中,sNfL在症状出现前和神经生理学证实多发性神经病变前从8.4 pg/mL增加到49.8 pg/mL。在服用TTR稳定剂的无症状ATTRv淀粉样变性患者中,sNfL在2年内保持稳定。结论:sNfL是ATTRv淀粉样变性患者在多发性神经病发前神经元早期损伤的生物标志物。目前的数据支持将 sNfL 用于筛查无症状的 TTRv 携带者以及监测疾病进展和治疗效果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Longitudinal analysis of serum neurofilament light chain levels as marker for neuronal damage in hereditary transthyretin amyloidosis.

Objective: To evaluate serum neurofilament light chain (sNfL) as biomarker of disease onset, progression and treatment effect in hereditary transthyretin (ATTRv) amyloidosis patients and TTR variant (TTRv) carriers.

Methods: sNfL levels were assessed longitudinally in persistently asymptomatic TTRv carriers (N = 12), persistently asymptomatic ATTRv amyloidosis patients (defined as asymptomatic patients but with amyloid detectable in subcutaneous abdominal fat tissue) (N = 8), in TTRv carriers who developed polyneuropathy (N = 7) and in ATTRv amyloidosis patients with polyneuropathy on treatment (TTR-stabiliser (N = 20) or TTR-silencer (N = 18)). Polyneuropathy was confirmed by nerve conduction studies or quantitative sensory testing. sNfL was analysed using a single-molecule array assay.

Results: sNfL increased over 2 years in persistently asymptomatic ATTRv amyloidosis patients, but did not change in persistently asymptomatic TTRv carriers. In all TTRv carriers who developed polyneuropathy, sNfL increased from 8.4 to 49.8 pg/mL before the onset of symptoms and before polyneuropathy could be confirmed neurophysiologically. In symptomatic ATTRv amyloidosis patients on a TTR-stabiliser, sNfL remained stable over 2 years. In patients on a TTR-silencer, sNfL decreased after 1 year of treatment.

Conclusion: sNfL is a biomarker of early neuronal damage in ATTRv amyloidosis already before the onset of polyneuropathy. Current data support the use of sNfL in screening asymptomatic TTRv carriers and in monitoring of disease progression and treatment effect.

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来源期刊
Amyloid-Journal of Protein Folding Disorders
Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学
CiteScore
10.60
自引率
10.90%
发文量
48
审稿时长
6-12 weeks
期刊介绍: Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.
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