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. 1995:3:S154-8.
doi: 10.1002/mus.880181430.

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

J Poulton  1 , K J Morten, D Marchington, K Weber, G K Brown, A Rötig, L Bindoff
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Duplications of mitochondrial DNA in Kearns-Sayre syndrome

J Poulton et al. Muscle Nerve Suppl. 1995.

Abstract

mtDNA duplications were detectable in 10 of 10 patients with mtDNA deletions and Kearns-Sayre syndrome (KSS) and in none of 8 patients with chronic progressive external ophthalmoplegia (CPEO). Thus, duplications of mtDNA seem to be a distinctive feature of KSS, including patients where Pearson's syndrome is the first manifestation. Diabetes mellitus was identified in 4 of 7 patients with high or moderate levels of mtDNA duplications. The balance of mtDNA rearrangements may be central to the pathogenesis of this unique group of disorders.

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