Study progress of mitochondrial DNA depletion syndromes / 中华实用儿科临床杂志

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 formsmyopathic,encephalomyopathic,hepa - tocerebarl and neurogastrointestinal. The following 9 types of related genes have been reporteda 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.