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在患有严重长期COVID的患者中,遗传景观和线粒体代谢失调
Kristoffer Skaalum Hansen1,2, Sofie Eg Jørgensen1,3, Cagla Cömert2,4
1Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark.
Journal of medical virology
|March 3, 2025
概括
遗传缺陷可能会使个人在长期COVID (冠状病毒疾病2019) 中产生线粒体功能障碍. 这项研究发现了患者的致病变体和改变的细胞能量,表明可能与长期COVID症状有潜在的遗传联系.
科学领域:
- 遗传学 是一个遗传学.
- 线粒体生物学 线粒体生物学
- 传染性疾病 传染性疾病
背景情况:
- 长期COVID (冠状病毒疾病2019) 是一个全球性健康挑战,原因尚不清楚.
- 长期COVID和线粒体疾病之间存在症状重叠.
- 在长期COVID中影响线粒体功能障碍的遗传因素仍然未被探索.
研究的目的:
- 在严重的长期COVID中调查线粒体功能障碍的遗传基础.
- 在长期COVID患者中识别与线粒体功能相关的遗传变异.
- 为了评估长期COVID患者的细胞生物能量.
主要方法:
- 13名严重长期COVID患者的全基因组测序.
- 外细胞生物能学对外围血液单核细胞的流量分析.
- 与健康对照组相比,蛋白质组学用于评估细胞生物能学.
主要成果:
- 在线粒体相关基因中确定了10种致病性/可能致病性和83种未知意义的变异.
- 四名长期COVID患者表现出外围血液单核细胞中的ATP生产率发生变化.
- 在一小部分患者中证明了细胞能量容量的改变.
结论:
- 提供了对长期COVID中线粒体功能障碍的潜在遗传倾向的初步证据.
- 长期COVID患者的一个子集中突出了改变的细胞能量容量.
- 建议研究线粒体病理学和针对长期COVID的向疗法.
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