High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart

Bernard Fromenty, Rosalba Carrozzo, Sara Shanske, Eric A. Schon

Research output: Contribution to journalArticlepeer-review


Kearns-Sayre syndrome (KSS) is a sporadic multisystem mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset before age 20, and severe cardiac conduction defects that can lead to death. KSS patients harbor partial deletions of mitochondrial DNA (Δ-mtDNA), sometimes associated with the corresponding mtDNA duplication (dup-mtDNA). As reports on the distribution of dup-mtDNAs among KSS tissues are scarce, we searched for the presence of dup-mtDNAs in different autopsy tissues of two such patients, one of whom carried the so-called 'common deletion.' Using a newly developed long polymerase chain reaction (PCR) protocol in conjunction with Southern blot analyses, we found dup-mtDNAs in most of the examined tissues from both patients. The proportion of dup-mtDNA in these tissues was much lower than the proportion of Δ-mtDNA, with one notable exception: in both patients, we found an unusually high level of dup- mtDNA in the heart. These data suggest that dup-mtDNAs may be more stable in heart tissue of KSS patients than in other long-lived postmitotic tissues.

Original languageEnglish
Pages (from-to)443-452
Number of pages10
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - Sep 5 1997


  • DNA
  • KSS
  • Long PCR
  • Mitochondria
  • Mitochondrial disease
  • Polymerase chain reaction
  • Progressive external ophthalmoplegia

ASJC Scopus subject areas

  • Genetics(clinical)

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