Depletion of mtDNA: Syndromes and genes

Simona Alberio, Rossana Mineri, Valeria Tiranti, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review


Maintenance of mitochondrial DNA (mtDNA) requires the concerted activity of several nuclear-encoded factors that participate in its replication, being part of the mitochondrial replisome or ensuring the balanced supply of dNTPs to mitochondria. In the past decade, a growing number of syndromes associated with dysfunction due to tissue-specific depletion of mtDNA (MDS) have been reported. This article reviews the current knowledge of the genes responsible for these disorders, the impact of different mutations in the epidemiology of MDS and their role in the pathogenic mechanisms underlying the different clinical presentations.

Original languageEnglish
Pages (from-to)6-12
Number of pages7
Issue number1-2
Publication statusPublished - Feb 2007


  • mtDNA depletion
  • Tissue specificity

ASJC Scopus subject areas

  • Biophysics


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