Abstract
The mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are genetically heterogenous disorders due to pathogenic variants in nuclear genes involved in mtDNA biosynthesis and maintenance of the deoxynucleotide pools. The clinical presentation of MDS depends on which gene is involved and may be tissue specific or multisystemic. Severe reduction in mtDNA content can lead to impaired energy production in affected tissues and organs. We established a fast and reliable method to evaluate mtDNA content to facilitate disease diagnosis, prognosis and enable early intervention for patients at risk.
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