Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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

Research output: Contribution to journalArticle

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Abstract

We have identified large-scale deletions in muscle mitochondrial DNA (mtDN A) 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 abnormality of mitochondrial enzymes, or clinical severity. The data bolster arguments that KSS is a unique disorder and genetic in origin.

Original languageEnglish
Pages (from-to)1339-1346
Number of pages8
JournalNeurology
Volume38
Issue number9
Publication statusPublished - 1988

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Kearns-Sayre Syndrome
Mitochondrial DNA
Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Inborn Genetic Diseases
Mitochondrial Genome
Genome
Muscles
Enzymes
Syndrome

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • 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.

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. / Zeviani, M.; Moraes, C. T.; DiMauro, S.; Nakase, H.; Bonilla, E.; Schon, E. A.; Rowland, L. P.

In: Neurology, Vol. 38, No. 9, 1988, p. 1339-1346.

Research output: Contribution to journalArticle

Zeviani, M, Moraes, CT, DiMauro, S, Nakase, H, Bonilla, E, Schon, EA & Rowland, LP 1988, 'Deletions of mitochondrial DNA in Kearns-Sayre syndrome', Neurology, vol. 38, no. 9, pp. 1339-1346.
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 1988;38(9):1339-1346.
Zeviani, M. ; Moraes, C. T. ; DiMauro, S. ; Nakase, H. ; Bonilla, E. ; Schon, E. A. ; Rowland, L. P. / Deletions of mitochondrial DNA in Kearns-Sayre syndrome. In: Neurology. 1988 ; Vol. 38, No. 9. pp. 1339-1346.
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