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Genetic Disorders of the Mitochondrial OXPHOS System

Massimo Zeviani, Eleonora Lamantea
From: Science & Medicine: Volume 10 Number 3: Page 154 (June 2005)

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Abstract: The principal function of mitochondria is to produce energy, which it achieves via the electron transport chain and oxidative phosphorylation (OXPHOS). The OXPHOS system consists of five multiprotein complexes, the individual subunits of which are encoded by two separate genetic systems: the mitochondrial genome and the nuclear genome. Defects in the OXPHOS system result in highly heterogeneous, mainly multisystem diseases. In recent years, the genetic mutations in the mitochondrial and nuclear genes that underlie these disorders have begun to be revealed. Point mutations and gene rearrangements in mtDNA have been associated with specific human mitochondrial disease, and more recently, mutations in the nuclear DNA have been recognized to also affect OXPHOS function.

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