Muscle & Nerve · 1995 · 47 citations · 18 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMitochondrial BiologyMitochondrial GeneticsGenetic DisordersGenetic SyndromesMitochondrial DiseaseMitochondrial DisordersMitochondrial Ocular DisordersNeurogenetic DisordersChronic Progressive External OphthalmoplegiaGenomic DeletionsKearns-sayre SyndromeMitochondrial Disease GeneticsMitochondrial Dna MutationsMitochondrial Genome DuplicationMitochondrial SyndromesPearson Syndrome
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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