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  • Title: Disorders of mitochondria and related metabolism.
    Author: Zeviani M, Fernandez-Silva P, Tiranti V.
    Journal: Curr Opin Neurol; 1997 Apr; 10(2):160-7. PubMed ID: 9146998.
    Abstract:
    Mitochondrial disorders are caused by mutations in either nuclear or mitochondrial genes involved in the synthesis of respiratory chain subunits or in their post-translational control. Molecular lesions of mitochondrial DNA are a frequent cause of defective oxidative phosphorylation. Although only one mutation of nuclear-encoded oxidative phosphorylation subunits has so far been reported in humans, numerous biochemically defined disorders are attributed to nuclear gene defects. The pathogenesis of these disorders has been investigated through a combination of different expertises, including keen clinical observation, classical biochemistry and muscle morphology, molecular and cellular biology, linkage analysis and population genetic studies.
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