Advances in therapeutic approach for mitochondrial diseases
10.3760/cma.j.issn.1673-4408.2024.07.010
- VernacularTitle:线粒体疾病治疗研究进展
- Author:
Xin WANG
1
;
Shipin FENG
Author Information
1. 成都市妇女儿童中心医院儿童肾脏内科 610091
- Keywords:
Mitochondrial diseases;
Mitochondrial therapy;
Emerging therapy
- From:
International Journal of Pediatrics
2024;51(7):471-475
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial DNA replicates almost independently of the nucleus，and its inheritance follows a non-Mendelian pattern，passed entirely from mother to child.Numerous studies have identified genetic disorders associated with mutations in mitochondrial DNA. Mitochondrial disorders presenting in childhood are clinically，biochemically，and genetically complex and variable，and can involve many organs in the body，and these differential manifestations present significant difficulties in the treatment of this group of disorders.Current advances in the treatment of the disease lag far behind genetic research.A few gene defects have suggested clear treatment strategies，such as coenzyme Q10 supplementation for disorders of coenzyme Q10 biosynthesis，and riboflavin for defects of riboflavin transport and metabolism as well as various flavoprotein disorders.Most mitochondrial diseases exhibit fatal symptoms，and therefore therapeutic studies are currently underway for various approaches，such as stimulation of the defective OXPHOS system，mitochondrial replacement，and allogeneic expression of defective enzymes.This review describes currently available and emerging therapies.
