Progress in molecular diagnosis of mitochondrial disease
10.3969/j.issn.1673-4130.2024.17.001
- VernacularTitle:线粒体病分子诊断技术进展
- Author:
Lijun SHEN
1
;
Ya WANG
;
Huaibin ZHOU
;
Lianting CHEN
;
Wen CAI
;
Hezhi FANG
Author Information
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
- Keywords:
mitochondrial disease;
diagnosis;
biomarker;
oxidative phosphorylation
- From:
International Journal of Laboratory Medicine
2024;45(17):2049-2057
- CountryChina
- Language:Chinese
-
Abstract:
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 investiga-tions remains high.Consequently,new mitochondrial disease laboratory diagnostic techniques continue to e-merge and are used to aid in disease diagnosis.This review attempts to summarize the current progress in mi-tochondrial disease laboratory diagnostics at three levels:genetics,enzyme biochemistry,and metabolic biolo-gy,providing references for the selection of laboratory diagnostic strategies in specific scenarios,as well as suggestions for the development of future detection technologies.
