Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes

  • Antonella Spinazzola
  • Massimo ZevianiEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 652)


More than one billion years ago, mitochondria were free-living prokaryotic organisms with their own DNA. However, during the evolution, ancestral genes have been transferred from the mitochondrial to the nuclear genome so that mtDNA became dependent on numerous nucleus-encoded factors for its integrity, replication and expression. Mutations in any of these factors may alter the cross-talk between the two genomes and cause Mendelian diseases that affect mtDNA integrity or expression.


Mitochondrial disease Mitochondrial DNA mtDNA depletion mtDNA multiple deletions Nucleus Mitochondrion cross-talk 



This work was supported by the Pierfranco and Luisa Mariani Foundation Italy, Fondazione Telethon-Italy grant number GGP07019, the Italian Ministry of University and Research (FIRB 2003 – project RBLA038RMA), MITOCIRCLE and EUMITOCOMBAT network grants from the European Union framework program 6.


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© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  1. 1.Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute “C. Besta”MilanoItaly
  2. 2.Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute “C. Besta”, via Libero Temolo 4MilanoItaly

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