Mitochondrial encephalomyopathies

S. DiMauro, Carlos T Moraes

Research output: Contribution to journalArticle

338 Citations (Scopus)

Abstract

Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes. Numerous mutations in mtDNA have been described in the past 5 years, and, it is, therefore, important for the clinician to keep in mind both some characteristic clinical presentations and, more importantly, some basic principles of 'mitochondrial genetics,' including heteroplasmy, the threshold effect, mitotic segregation, and maternal inheritance. The vast majority of mitochondrial proteins are encoded by nuclear DNA (nDNA) and have to be imported from the cytoplasm into mitochondria through a complex translocation machinery, which is also under the control of the nuclear genome. In addition, nDNA encodes several factors that control mtDNA replication, transcription, and translocation. Mitochondrial diseases due to mutations in nDNA are transmitted as mendelian traits and fall into three categories: (1) alterations of mitochondrial proteins; (2) alterations of mitochondrial protein importation; and (3) alterations of intergenomic communication. The first group of disorders can be further classified on the basis of the biochemical area affected, including defects of transport, defects of substrate utilization, defects of the Krebs cycle, defects of oxidation/phosphorylation coupling, and defects of the respiratory chain. The second group includes only few well-documented disorders but will certainly expand in the near future. The third group includes two conditions, an autosomal dominant form of progressive external ophthalmoplegia associated with multiple mtDNA deletions, and a quantitative defect of mtDNA (mtDNA depletion) causing severe infantile myopathy or hepatopathy.

Original languageEnglish
Pages (from-to)1197-1208
Number of pages12
JournalArchives of Neurology
Volume50
Issue number11
StatePublished - Nov 19 1993
Externally publishedYes

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Mitochondrial Encephalomyopathies
Mitochondria
DNA
Mitochondrial Proteins
Mitochondrial Diseases
Electron Transport
Chronic Progressive External Ophthalmoplegia
Mutation
Citric Acid Cycle
Muscular Diseases
DNA Replication
Cytoplasm
Defects
Phosphorylation
Genome

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mitochondrial encephalomyopathies. / DiMauro, S.; Moraes, Carlos T.

In: Archives of Neurology, Vol. 50, No. 11, 19.11.1993, p. 1197-1208.

Research output: Contribution to journalArticle

DiMauro, S & Moraes, CT 1993, 'Mitochondrial encephalomyopathies', Archives of Neurology, vol. 50, no. 11, pp. 1197-1208.
DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Archives of Neurology. 1993 Nov 19;50(11):1197-1208.
DiMauro, S. ; Moraes, Carlos T. / Mitochondrial encephalomyopathies. In: Archives of Neurology. 1993 ; Vol. 50, No. 11. pp. 1197-1208.
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