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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.

Original publication

DOI

10.1002/mus.880181430

Type

Conference paper

Publication Date

1995

Volume

3

Pages

S154 - S158

Keywords

Adult, Chromosome Deletion, DNA, Mitochondrial, Diabetes Mellitus, Gene Rearrangement, Humans, Kearns-Sayre Syndrome, Ophthalmoplegia