Heteroplasmy in chronic external ophthalmoplegia: Clinical and molecular observations

Orest Hurko, Donald R. Johns, S. Lane Rutledge, O. Colin Stine, Patti L. Peterson, Neil R. Miller, Margaret E. Martens, Daniel B. Drachman, Robert H. Brown, C. P. Lee

Research output: Contribution to journalArticle

Abstract

Chronic progressive external ophthalmoplegia (CPEO) describes a recognizable clinical syndrome frequently associated with variable dysfunction in other organ systems. Histochemical and biochemical studies suggested primary dysfunction of oxidative phosphorylation. This has recently been confirmed by demonstration of partially deleted as well as normal mitochondrial DNA— heteroplasmy—in some of these patients, most of them sporadic. In the six heteroplasmic CPEO patients that we have examined to date, the partially deleted species has been detected in all tissues tested, albeit in vastly different proportions. We report here detection of physiologically significant proportions of partially deleted mitochondrial DNA in several organs taken at autopsy from a CPEO patient with severe multisystem disease. We discuss the relationship of CPEO to several other clinical phenotypes associated with mitochondrial dysfunction, and discuss the possible implications of heteroplasmy for the development of variable phenotypes.

Original languageEnglish (US)
Pages (from-to)542-548
Number of pages7
JournalPediatric research
Volume28
Issue number5
DOIs
StatePublished - Nov 1990

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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