Abstract
Mitochondrial OXPHOS is at the crosspoint of two quite different genetic systems, the nuclear genome, and the mitochondrial genome (mitochondrial DNA, mtDNA). The latter encodes a few essential components of the mitochondrial respiratory chain, and has unique molecular and genetic properties that account for some of the peculiar features of mitochondrial disorders. Although mitochondrial disorders have been known for more than thirty years, a major breakthrough in their understanding has come much later, with the discovery of an impressive, ever increasing number of mutations of mitochondrial DNA. Partial deletions or duplications of mtDNA, or maternally inherited point mutations, have been associated with well-defined clinical syndromes. Given the complexity of mitochondrial genetics and biochemistry, the clinical manifestations of mitochondrial disorders are extremely heterogeneous. They range from lesions of single tissues or structures, such as the optic nerve in Leber s hereditary optic neuropathy, or the cochlea in maternally-inherited nonsyndromic deafness, to more widespread lesions including myopathies, encephalomyopathies, cardiopathies, or complex multisystem syndromes. The recent advances in genetic studies provide both diagnostic tools and new pathogenetic insights in this rapidly expanding area of human pathology.
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Zeviani, M., Carelli, V. (2004). Mitochondrial DNA and OXPHOS Disorders. In: Oxidative Phosphorylation in Health and Disease. Medical Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-26992-4_6
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