Disorders of mitochondria and related metabolism

Massimo Zeviani, Patricio Fernandez-Silva, Valeria Tiranti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)160-167
Number of pages8
JournalCurrent Opinion in Neurology
Volume10
Issue number2
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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