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临床表征和创始人效应分析在中国肌缩侧面硬化症患者SOD1常见变体

Pei-Shan Wang^1,2, Xin-Xia Yang^1,2, Qiao Wei^1,2

¹Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Annals of medicine

|October 1, 2024

概括

常见的SOD1变体在肌缩侧面硬化症 (ALS) 中显示出特定的基因型-表型相关性,特别是较低的运动神经元参与. 这些常见的变异,如p.H47R和p.V48A,似乎并非源自单一的共同祖先.

科学领域:

遗传学遗传学是一个
神经学神经学
分子生物学分子生物学

背景情况:

超氧化解突变酶1 (SOD1) 变体是亚洲人群中肌缩侧面硬化症 (ALS) 的主要原因,已确定超过200种变体.
了解基因型-表型相关性对于预测ALS疾病进展和患者结果至关重要.

研究的目的:

总结ALS患者SOD1变异的基因型-表型相关性.
调查亚洲人群中常见的SOD1变种是否具有共同的祖先起源.

主要方法:

整体外基因组测序用于识别103个零星和11个家族ALS病例中的SOD1变异.
在患者衍生的纤维细胞上进行了功能分析,并对常见变异 (p.H47R,p.V48A) 进行了哈普洛型分析.

主要成果:

在44名试验者中发现了25种SOD1变异,其中p.H47R,p.V48A和p.C112Y是最常见的.
患有p.H47R或p.V48A的患者主要表现出下肢发作与下部运动神经元参与,具有明显的疾病持续时间和进展率.
SOD1纤维细胞显示线粒体功能受损,氧化应激增加. 哈普洛型分析表明,p.H47R和p.V48A变体没有共同的创始人.

结论:

这项研究增强了对SOD1相关ALS的基因型-表型相关性的理解.
在被研究的人群中,常见的SOD1变异p.H47R和p.V48A并非来自单一的共同创始人,这表明独立的起源或多重引入.

关键词:

肌缩性侧面硬化症 (AMLS) 是一种疾病.华人中文华人中文是什么意思在SOD1中,SOD1是SOD1.在SOD1的聚合上,SOD1的聚合.常见的变体常见的变体这是创始人效应.

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