Insights into spinal muscular atrophy from molecular biomarkers.

IF 5.9 2区 医学 Q2 CELL BIOLOGY Neural Regeneration Research Pub Date : 2025-07-01 Epub Date: 2024-06-26 DOI:10.4103/NRR.NRR-D-24-00067
Xiaodong Xing, Xinzhu Liu, Xiandeng Li, Mi Li, Xian Wu, Xiaohui Huang, Ajing Xu, Yan Liu, Jian Zhang
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Abstract

Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving more attention, and new candidate biomarkers are constantly being discovered. This review initially discusses the evaluation methods commonly used in clinical practice while briefly outlining their respective pros and cons. We also describe recent advancements in research and the clinical significance of molecular biomarkers for spinal muscular atrophy, which are classified as either specific or non-specific biomarkers. This review provides new insights into the pathogenesis of spinal muscular atrophy, the mechanism of biomarkers in response to drug-modified therapies, the selection of biomarker candidates, and would promote the development of future research. Furthermore, the successful utilization of biomarkers may facilitate the implementation of gene-targeting treatments for patients with spinal muscular atrophy.

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从分子生物标志物洞察脊髓性肌萎缩症。
摘要:脊髓性肌萎缩症是一种破坏性运动神经元疾病,其特征是严重的致命性肌无力。它是导致两岁以下婴儿死亡的最常见遗传原因之一。生物标志物研究目前正受到越来越多的关注,新的候选生物标志物也在不断被发现。本综述首先讨论了临床实践中常用的评估方法,同时简要概述了这些方法各自的优缺点。我们还介绍了脊髓性肌萎缩症分子生物标记物的最新研究进展和临床意义,这些标记物可分为特异性和非特异性生物标记物。这篇综述为脊髓性肌萎缩症的发病机制、生物标志物对药物改良疗法的反应机制、候选生物标志物的选择提供了新的见解,并将促进未来研究的发展。此外,成功利用生物标志物可能有助于对脊髓性肌萎缩症患者实施基因靶向治疗。
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来源期刊
Neural Regeneration Research
Neural Regeneration Research CELL BIOLOGY-NEUROSCIENCES
CiteScore
8.00
自引率
9.80%
发文量
515
审稿时长
1.0 months
期刊介绍: Neural Regeneration Research (NRR) is the Open Access journal specializing in neural regeneration and indexed by SCI-E and PubMed. The journal is committed to publishing articles on basic pathobiology of injury, repair and protection to the nervous system, while considering preclinical and clinical trials targeted at improving traumatically injuried patients and patients with neurodegenerative diseases.
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