自闭症谱系障碍和注意力缺陷多动性障碍中的线粒体DNA拷贝数:系统性审查和元分析
Ghada Al-Kafaji1, Haitham Ali Jahrami2,3, Materah Salem Alwehaidah4
1Department of Molecular Medicine and Al-Jawhara Centre for Molecular Medicine, Genetics, and Inherited Disorders, College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Bahrain.
Frontiers in psychiatry
|July 24, 2023
概括
线粒体DNA复制数 (mtDNA-cn) 在自闭症谱系障碍 (ASD) 和注意力缺陷多动性障碍 (ADHD) 中升高. 然而,基于血液的mtDNA-cn并不总是反映这种升高,这表明神经发育障碍中的复杂关系.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 生物标志物 生物标志物
背景情况:
- 改变的线粒体DNA拷贝数 (mtDNA-cn) 是线粒体功能障碍的潜在生物标志物.
- 之前的研究表明mtDNA-cn与自闭症谱系障碍 (ASD) 和注意力缺陷多动症障碍 (ADHD) 等神经发育障碍之间存在联系,但研究结果不一致.
研究的目的:
- 进行元分析,精确评估ASD和ADHD患者的mtDNA-cn水平.
- 总结当前的证据,并澄清mtDNA-cn在这些神经发育条件中的作用.
主要方法:
- 在主要数据库 (MEDLINE-PubMed,Scopus,EMBASE) 进行了系统的文献搜索,截至2023年2月.
- 对14项研究进行了随机效应元分析,其中包括666例ASD/ADHD病例和585例对照.
- 根据组织类型 (血液与非血液) 和年龄匹配进行了分层分析.
主要成果:
- 总体而言,与对照组相比,ASD/ADHD患者的mtDNA-cn显著更高 (p=0.0275).
- 这种升高在非血液样本中显著 (p=0.0122),但在血液样本中没有显著 (p=0.284).
- 分层分析显示,非血液样本 (p<0.001) 和ADHD患者的血液样本 (p=0.033) 显著增加,但在所有基于血液的分析或ASD患者的血液样本中不一致.
结论:
- 这一元分析表明在ASD和ADHD中mtDNA-cn升高,支持线粒体功能障碍在神经发育中的作用.
- 血源mtDNA-cn可能不会准确地反映ASD/ADHD的组织特异性变化.
- 未来的研究应该考虑血细胞组成,并探索唾液mtDNA-cn作为潜在的生物标志物.
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