线粒体疾病患者是否容易发生炎症和免疫功能障碍:范围回顾和回顾性图表分析

Eiti Rautela , Savannah Sauve , Nikki Kovac , Edana Cassol , David Dyment , Martin Holcik
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摘要

线粒体疾病(MDs)是一个重要的患者负担,与各种代谢过程和细胞能量产生的失调有关。此外,线粒体在调节免疫功能和炎症反应中发挥核心作用。本研究旨在探讨MD与免疫功能障碍之间的联系,包括炎症作为对感染的特异性免疫反应。进行了范围文献回顾和回顾性图表回顾。范围审查遵循Arksey和O'Malley的五阶段方法框架,使用Covidence作为管理软件从PubMed中提取1823篇文章,并分析了10篇文章的全文。回顾性分析了东安大略儿童医院确诊为MD的92例患者。范围审查确定了与炎症相关的MDs病例,包括患有polg相关疾病的个体。在复杂MDs的一个亚群中观察到免疫功能障碍,特别是在POLGF和ATAD3A双等位基因变异的个体中,他们有沉重的疾病负担。范围研究和回顾性图表回顾的结果表明,复杂MD与炎症和免疫功能改变之间存在关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Are patients with mitochondrial diseases prone to inflammatory and immune dysfunction: A scoping review and retrospective chart analysis
Mitochondrial diseases (MDs) are a significant patient burden and are linked to the dysregulation of various metabolic processes and cellular energy production. Additionally, mitochondria play a central role in regulating immune function and inflammatory response. This study aimed to examine the connection between MD and immune dysfunction, including inflammation as a specific immune response to infection. A scoping literature review and retrospective chart review were conducted. The scoping review followed the five-stage methodology framework by Arksey and O'Malley, extracting 1823 articles from PubMed using Covidence as managing software, with full texts of 10 articles analyzed. A retrospective patient chart review was conducted on 92 patients with a confirmed diagnosis of MD from the Children's Hospital of Eastern Ontario. The scoping review identified cases of MDs associated with inflammation, including individuals with POLG-associated disease. Immune dysfunction was observed in a subset of complex MDs, particularly in individuals with biallelic variation in POLGF and ATAD3A, who had a heavy burden of disease. The results from both the scoping and retrospective chart reviews suggest an association between complex MD and altered inflammatory and immune functions.
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