脊髓性肌萎缩症表型修饰基因的研究进展

doi:10.7499/j.issn.1008-8830.2410064

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摘要脊髓性肌萎缩症（spinal muscular atrophy, SMA）是儿童时期较为常见的致死性常染色体隐性遗传病，SMN1基因纯合缺失是其主要致病原因，其主要特征是脊髓前角运动神经元退行性变导致近端肢体对称性进行性肌无力和肌萎缩。但是在相同遗传基础下，SMA患者往往表现出不同的疾病严重程度，除已明确的修饰基因SMN2基因外，其他修饰基因对SMA临床表型的作用同样不可忽视。该文就SMA致病基因和修饰基因的最新进展进行综述，旨在深入理解SMA的致病机制和表型差异，同时为疾病治疗提供新的策略和靶点。

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	潘薇
	曹延延

关键词 ：脊髓性肌萎缩症, 运动神经元存活1基因, 运动神经元存活2基因, 表型修饰基因

Abstract：Spinal muscular atrophy (SMA) is a common fatal autosomal recessive genetic disorder in childhood, primarily caused by homozygous deletion of the SMN1 gene. Its main characteristics include the degenerative changes in the anterior horn motor neurons of the spinal cord, leading to symmetrical progressive muscle weakness and atrophy of the proximal limbs. However, SMA patients with the same genetic background often exhibit different degrees of disease severity. In addition to the well-established modifier gene SMN2, the effect of other modifier genes on clinical phenotypes should not be overlooked. This paper reviews the latest advancements in the pathogenic and modifier genes of SMA, aiming to provide a deeper understanding of the pathogenic mechanisms and phenotypic differences in SMA, as well as to offer new strategies and targets for treating this condition.

Key words： Spinal muscular atrophy Survival motor neuron 1 Survival motor neuron 2 Phenotypicmodifier gene

收稿日期: 2024-10-17

基金资助:河北省自然科学基金（H2022316005）。

通讯作者: 曹延延，女，副研究员。Email：caoyanyan@bjmu.edu.cn。 E-mail: caoyanyan@bjmu.edu.cn

作者简介: 潘薇，女，硕士研究生；

引用本文:

潘薇,曹延延. 脊髓性肌萎缩症表型修饰基因的研究进展[J]. 中国当代儿科杂志, 2025, 27(2): 229-235.

PAN Wei,CAO Yan-Yan. Research progress on phenotypic modifier genes in spinal muscular atrophy[J]. CJCP, 2025, 27(2): 229-235.

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http://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2410064 或 http://www.zgddek.com/CN/Y2025/V27/I2/229

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