线粒体疾病治疗研究进展
Advances in therapeutic approach for mitochondrial diseases
王欣 1冯仕品1
作者信息
- 1. 成都市妇女儿童中心医院儿童肾脏内科 610091
- 折叠
摘要
线粒体DNA独立于细胞核自主复制,其遗传遵循非孟德尔模式,完全由母亲传给子女.大量研究发现了与线粒体DNA变异有关的遗传性疾病.儿童期出现的线粒体疾病呈现临床、生化和遗传复杂多变的特点,可累及多个器官,这些差异性表现为该类疾病的治疗带来了巨大困难.目前该病的治疗进展远远落后于基因研究.对于少数基因缺陷,存在明确的治疗策略,如补充辅酶Q10治疗辅酶Q10合成障碍,补充核黄素治疗核黄素转运和代谢缺陷等.大多数线粒体疾病都会表现出危及生命的症状,因此目前正在进行各种方法的治疗研究,如刺激有缺陷的氧化磷酸化系统、线粒体置换和缺陷酶的异构表达.该综述介绍了线粒体疾病目前可用的疗法和新兴疗法.
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.
关键词
线粒体疾病/线粒体治疗/新兴疗法Key words
Mitochondrial diseases/Mitochondrial therapy/Emerging therapy引用本文复制引用
出版年
2024
NETL
NSTL
万方数据