Duplications of mitochondrial DNA in Kearns-Sayre 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.
Poulton
J
J
Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Headington, UK.
Morten
K J
KJ
Marchington
D
D
Weber
K
K
Brown
G K
GK
Rötig
A
A
Bindoff
L
L
D000328:Adult; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D015321:Gene Rearrangement; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*
D004272:DNA, Mitochondrial