Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.
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.
Spinazzola
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A
Unit of Molecular Neurogenetics, C. Besta Neurological Institute, Foundation IRCCS, Milano, Italy.
Zeviani
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M
D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D004195:Disease Models, Animal; D017353:Gene Deletion; D006801:Humans; D051379:Mice; D028361:Mitochondrial Diseases / Q000145:classification / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010085:Oxidative Phosphorylation
D004272:DNA, Mitochondrial