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, SUCLG1, or RRM2B; a hepa-tocerebral form associated with mutations in DGUOK, MPV17, POLG, or C10orf2; 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, histopathology, respiratory chain complex testing and mtDNA quantification is needed for the diagnosis.The final diagnosis requires genetic testing. Key words: Mitochondrial DNA depletion syndrome; Mitochondrial gene; Diagnosis
Published Version
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