© 1994 Oxford University Press
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Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?
Department of Paediatrics, University of Oxford, John Radcliffe Hospital Headington, Oxford OX3 9DU, UK 1Division of Clinical Neurosciences, The Medical School Framlington Place, Newcastle upon Tyne NE2 4HH, UK 2Department of Biochemistry, University of Oxford Oxford OX1 3QU, UK
*To whom correspondence should be addressed
Received February 16, 1994; Revised March 25, 1994; Accepted March 25, 1994
The phenotypes of Kearns–Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO) are closely associated with deletions of mitochondrial DNA (mtDNA). Recent evidence suggesting that more than one type of rearrangement may be present in KSS led us to reinvestigate 18 patients with KSS or CPEO for the presence of mtDNA rearrangements other than deletion. mtDNA duplication was detectable in 10 of 10 patients with KSS, while deletion monomers were the only recombinant mtDNA easily detectable in eight of eight patients with CPEO. Deletion dimers were found only in cases having duplications. Thus, duplications of mtDNA seem to be a hallmark of KSS, including a patient where Pearson's syndrome was the first manifestation. We suggest that duplication of mtDNA is characteristic of the early-onset disease KSS, and that the balance of mtDNA rearrangements may be central to the pathogenesis of this unique group of disorders.
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