线粒体病分子诊断技术进展  

Progress in molecular diagnosis of mitochondrial disease

作　　者：沈丽君[1] 王娅 周怀彬[1] 陈连婷 蔡雯 方合志[1] SHEN Lijun;WANG Ya;ZHOU Huaibin;CHEN Lianting;CAI Wen;FANG Hezhi(Zhejiang Provincial Key Laboratory of Medical Genetics/College of Laboratory Medicine and Life Sciences,Wenzhou Medical University,Wenzhou,Zhejiang 325035,China)

机构地区：[1]浙江省医学遗传学重点实验室/温州医科大学检验医学院(生命科学学院),浙江温州325035

出　　处：《国际检验医学杂志》2024年第17期2049-2057,共9页International Journal of Laboratory Medicine

基　　金：浙江省“尖兵领雁+X”研发攻关计划项目(2024C03152)。

摘　　要：线粒体病是一类重要的遗传代谢病,其发病可覆盖全年龄段,尤其是儿童线粒体病致死致残率极高。随着生物化学及分子与细胞生物学技术的发展,线粒体病的实验室诊断经历了快速的发展,相关诊断路径和策略也从高度有创的实验室检测逐渐过渡到以无创筛查为主。但是,线粒体病实验室诊断仍然存在单一检测策略的阳性诊断率不足、实验室漏检与待排查比例居高不下的困扰,因此新的线粒体病检测技术被开发并用于协助疾病的诊断。该文从基因、酶生物化学与代谢生物学3个层面对当前线粒体病实验室诊断的进展进行综述,旨在为特定场景下线粒体病实验室诊断策略选择提供参考,也为后续检测技术的研发提供一些建议。Mitochondrial disease is one of the major types of inherited metabolic disease that can affect all age groups,particularly in children where it has a high mortality and disability rate.With the development of biochemical,molecular,and cellular biology techniques,the laboratory diagnosis of mitochondrial disease has undergone rapid development.The diagnostic pathways and strategies have gradually transitioned from highly invasive laboratory tests to mainly non-invasive screenings.However,the challenge remains that the positive diagnostic rate of single testing strategies is insufficient,and the proportion of missed and pending investigations remains high.Consequently,new mitochondrial disease laboratory diagnostic techniques continue to emerge and are used to aid in disease diagnosis.This review attempts to summarize the current progress in mitochondrial disease laboratory diagnostics at three levels:genetics,enzyme biochemistry,and metabolic biology,providing references for the selection of laboratory diagnostic strategies in specific scenarios,as well as suggestions for the development of future detection technologies.

关 键 词：线粒体病 诊断 标志物 氧化磷酸化 

分 类 号：R596[医药卫生—内科学] R446.9[医药卫生—临床医学]