Insights into spinal muscular atrophy from molecular biomarkers
Xiaodong Xing1
Xinzhu Liu2
Xiandeng Li1
Mi Li2
Xian Wu1
Xiaohui Huang2
Ajing Xu2
Yan Liu2
Jian Zhang2
1.Department of Clinical Pharmacy,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai,China;College of Pharmacy,Chongqing Medical University,Chongqing,China2.Department of Clinical Pharmacy,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai,China
摘要：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.
机标关键词：insightsmolecularfromatrophybiomarkersintomuscularspinal
论文发表日期：2025-07-27
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：15( 1849-1863 )
英文信息