未知意义的有害变异的计算预测增加和精子mtDNA拷贝数可能与精液质量有关
Yuze Pi1, Zhuo Huang1,2, Xilin Xu3
1Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.
Andrology
|August 25, 2023
概括
精子线粒体DNA (mtDNA) 的变化,包括增加的副本数量和未知意义的变异,与精液质量降低有关. 这些变化可能是由精子发育过程中的环境因素引起的.
科学领域:
- 生殖生物学 生殖生物学
- 遗传学 是一个遗传学.
- 线粒体生物学 线粒体生物学
背景情况:
- 线粒体对精子运动至关重要,为运动提供能量.
- 精子线粒体DNA (mtDNA) 的变化会影响ATP的产生和精子的运动.
- 精子mtDNA变化与整体精液质量之间的关系尚不清楚.
研究的目的:
- 调查精子线粒体DNA (mtDNA) 和精液质量的变化之间的关联.
- 为了探索特定的mtDNA变化,如变异和副本数量变化与精液参数相关的变化.
主要方法:
- 精液和血液样本从患有性精子,性精子和/或性精子 (O/A/T) 的患者和对照人群收集.
- 用下一代测序来分析mtDNA.
- 定量实时PCR和聚合酶连锁反应评估了mtDNA拷贝数和4977bp的删除.
主要成果:
- 与对照组相比,患者携带致病变体或意义不明的变体 (VUSs) 的可能性更高,并且他们的mtDNA中异质体水平增加.
- 很大一部分O/A/T患者表现出异常高的mtDNA拷贝数,没有独特的变异.
- 在精子中观察到常见mtDNA变异的异质体减少,以及许多具有低异质体的de novomtDNA变异的出现.
结论:
- 高水平的有害VUS和精子中mtDNA拷贝数量的增加可能与精液质量受损有关.
- 环境突变压力可能会在精子生成过程中诱导新的mtDNA变异.
- 精子可能通过降解突变序列并复制正确的序列来调节mtDNA,以保持线粒体功能.
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