在先天性肌肉病的OXPHOS复杂缺陷:一个系统的审查
Megan J du Preez1, Maryke Schoonen1, Monray E Williams1
1Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.
European journal of clinical investigation
|September 12, 2025
概括
氧化酸化 (OXPHOS) 复杂功能障碍在先天性肌肉病中很常见,挑战其与线粒体疾病的排他性关联. 这一发现强调了线粒体参与作为先天性肌肉病理病理学的关键方面.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 线粒体生物学 线粒体生物学
背景情况:
- 遗传性肌肉病是一种遗传性神经肌肉疾病,具有早期开始的肌肉衰弱.
- 线粒体参与是公认的,但氧化酸化 (OXPHOS) 复杂功能障碍通常与先天性肌肉病不相关,与初级线粒体疾病 (MD) 不同.
研究的目的:
- 系统地审查和评估OXPHOS复杂功能障碍在遗传确认的先天性肌肉病症病例中的患病率和特征.
主要方法:
- 在PubMed,Scopus和Web of Science中按照PRISMA指南进行了系统的文献搜索.
- 两个独立的审查者选了研究对遗传确认的先天性肌肉病症病例或模型与诊断OXPHOS复合体分析 (酶动力学和/或表达).
主要成果:
- 涉及45例先天性肌肉病例的23篇出版物符合标准.
- 在78%的病例中报告了OXPHOS复杂功能障碍,包括所有患有OXPHOS酶学的人类病例.
- RYR1是最常见的涉及的基因,但没有发现与受影响的复合体有明确的基因型-表型关系.
结论:
- 在先天性肌肉病中,OXPHOS复杂功能障碍比以前认为的更为普遍,这让人们质疑它与MD的独特联系.
- 线粒体参与先天性肌肉病变对其病理生理学有意义,而不是偶然的.
- 在先天性肌肉病中识别OXPHOS失调可以完善先天性肌肉病和MD的诊断方法.
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