Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk

Spinazzola A, Zeviani M ("C. Besta" Neurological Institute, Foundation IRCCS, Milano, Italy). Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk (Review). J Intern Med 2009; 265: 174-192. In the course of evolution, mitochondria lost their independence, and mitochondrial DNA (mtDNA) became the 'slave' of nuclear DNA, depending 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 disorders characterized by qualitative (multiple deletions) or quantitative (depletion) alterations of mtDNA, or by defective translation of mtDNA-encoded respiratory chain components.