Heteroplasmy in Chronic External Ophthalmoplegia:Clinical and Molecular Observations
作者:
Orest Hurko,
Donald Johns,
S Lane Rutledge,
O Colin Stine,
Patti Peterson,
Neil Miller,
Margaret Martens,
Daniel Drachman,
Robert Brown,
C P Lee,
期刊:
Pediatric Research
(OVID Available online 1990)
卷期:
Volume 28,
issue 5
页码: 542-548
ISSN:0031-3998
年代: 1990
出版商: OVID
数据来源: OVID
摘要:
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.
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