Mitochondrial disorders

Massimo Zeviani, Stefano Di Donato

Research output: Contribution to journalArticle

Abstract

In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the clinical syndromes associated with abnormalities of the common final pathway of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Faulty oxidative phosphorylation may be due to overall dysfunction of the respiratory chain, a heteromultimeric structure embedded in the inner mitochondrial membrane, or can be associated with single or multiple defects of the five complexes forming the respiratory chain itself. From the genetic standpoint, the respiratory chain is a unique structure of the inner mitochondrial membrane formed by means of the complementation of two separate genetic systems: the nuclear genome and the mitochondrial genome. The nuclear genome encodes the large majority of the protein subunits of the respiratory complexes and most of the mitochondrial DNA (mtDNA) replication and expression systems, whereas the mitochondrial genome encodes only 13 respiratory complex subunits, and some RNA components of the mitochondrial translational apparatus. Accordingly, mitochondrial disorders due to defects in OXPHOS include both mendelian-inherited and cytoplasmic-inherited diseases. This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS.

Original languageEnglish
Pages (from-to)2153-2172
Number of pages20
JournalBrain
Volume127
Issue number10
DOIs
Publication statusPublished - Oct 2004

Keywords

  • Mitochondrial DNA mutations
  • Nuclear DNA mutations
  • Oxidative phosphorylation
  • Respiratory chain

ASJC Scopus subject areas

  • Neuroscience(all)

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  • Cite this

    Zeviani, M., & Di Donato, S. (2004). Mitochondrial disorders. Brain, 127(10), 2153-2172. https://doi.org/10.1093/brain/awh259