Mitochondrial diseases in childhood

A. Ardissone, E. Lamantea, F. Invernizzi, M. Zeviani, S. Genitrini, I. Moroni, G. Uziel

Research output: Contribution to journalArticlepeer-review


Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood.

Original languageEnglish
Pages (from-to)1069-1078
Number of pages10
JournalCurrent Molecular Medicine
Issue number8
Publication statusPublished - Mar 1 2014


  • Encephalomyocardiopathy
  • Leigh disease
  • Leukoencephalopathy
  • Mitochondrial depletions syndromes
  • Mitochondrial disorder in childhood
  • Respiratory chain defects

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Molecular Medicine

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