Study progress of mitochondrial DNA depletion syndromes
10. 3760/cma. j. issn. 2095-428x. 2019. 04. 019
- VernacularTitle:线粒体DNA耗竭综合征研究进展
- Author:
Jiaxin XU
1
;
Bojie HUANG
;
Hong JIANG
;
Xianghong LI
Author Information
1. 青岛大学附属医院新生儿科266003
- Keywords:
Mitochondrial DNA depletion syndrome;
Mitochondrial gene;
Diagnosis
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(4):314-317
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial DNA(mtDNA)depletion syndromes(MDS)is a type of autosomal recessive genetic disease characterized by a severe reduction in mtDNA content caused by mutations in the nuclear gene,which results in impaired energy production in affected tissues and organs. According to phenotype,MDS are usually classified as 4 forms:myopathic,encephalomyopathic,hepa - tocerebarl and neurogastrointestinal. The following 9 types of related genes have been reported:a myopathic form associated with mutations in TK2;an encephalomyopathic form associated with mutations in SUCLA2,SUCLGl,or RRM2B;a hepa-tocerebral form associated with mutations in DGUOK,MPVl7, POLG,or Cl0orf2;and a neurogastrointestinal form associated with mutations in TYMP. Some MDS can lead to early death in newborns and infants,so early identification is very important. Combination of biochemical testing,histopatholo-gy,respiratory chain complex testing and mtDNA quantification is needed for the diagnosis. The final diagnosis requires genetic testing.
