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缺少ATP5F1A会导致人类和斑马鱼的发育迟缓和运动功能障碍

Chunyan Xian¹, Qing Luo¹, Weiping Li²

¹Department of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Sichuan Province Engineering Technology Research Center of Molecular Diagnosis of Clinical Diseases, Molecular Diagnosis of Clinical Diseases Key Laboratory of Luzhou, 25 Taiping Street, Luzhou, 646000, Sichuan, China.

Journal of translational medicine

|October 7, 2025

概括

这项研究确定了一种新的ATP合成F1亚单元α (ATP5F1A) 基因突变,导致线粒体疾病. 斑马鱼模型显示,ATP5F1A功能障碍会影响运动神经元发育和自,导致多系统缺陷.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
发展生物学发展生物学

背景情况:

ATP合成酶F1亚单元α (ATP5F1A) 基因对线粒体复合体V至关重要.
在ATP5F1A的突变导致线粒体复合体V缺乏症疾病.
关于基因型-表型相关性和ATP5F1A缺乏的分子机制的理解有限.

研究的目的:

为了研究ATP5F1A缺乏症的致病机制.
为了功能性地分析ATP5F1A基因中反复出现的误解变异.

主要方法:

整体外基因组测序和三组分析确定了汉族中国家族的致病变体.
生物信息预测和结构建模评估了病原性.
用HEK293T细胞和斑马鱼模型进行功能分析.
RNA测序探索了潜在的分子通路.

主要成果:

在ATP5F1A中发现了一种新的误解变异 (c.1252G>A,p.Gly418Arg),降低了蛋白质的稳定性和表达.
斑马鱼的atp5fa1中断导致生长迟缓,运动功能障碍和运动神经元发育受损.
转录组分析显示,神经传递和阿林信号通路的丰富,与自相关基因的下调.

结论:

这项研究报告了中国人群中第一个致病性ATP5F1A突变.
斑马鱼模型中的ATP5F1A功能障碍导致多系统缺陷和疾病表型.
抑制自细胞激活机制可能会调解观察到的表型.

关键词:

在 ATP5F1A 中,复杂的v缺陷复杂的v缺陷复杂的神经发育缺陷的神经发育缺陷斑马鱼是一种斑马鱼.

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