Deletions of mitochondrial DNA in Kearns-Sayre syndrome

M. Zeviani, Carlos T Moraes, S. DiMauro, H. Nakase, E. Bonilla, E. A. Schon, L. P. Rowland

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Abstract

We have identified large-scale deletions in muscle mitochondrial DNA (mtDNA) in seven of seven patients with Kearns-Sayre syndrome (KSS). We found no detectable deletions in the mtDNA of ten non-KSS patients with other mitochondrial myopathies or encephalomyopathies, or three normal controls. The deletions ranged in size from 2.0 to 7.0 kb, and did not localize to any single region of the mitochondrial genome. The proportion of mutated genomes in each KSS patient ranged from 45% to 75% of total mtDNA. There was no correlation between the size or site of the deletion, biochemical abnormalities of mitochondrial enzymes, or clinical severity. The data bolster argue that KSS is a unique disorder and genetic in origin.

Original languageEnglish
Pages (from-to)1339-1346
Number of pages8
JournalNeurology
Volume38
Issue number9
StatePublished - Jan 1 1988
Externally publishedYes

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., & Rowland, L. P. (1988). Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology, 38(9), 1339-1346.