Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

Gene. 2019 Mar 10;688:171-181. doi: 10.1016/j.gene.2018.11.085. Epub 2018 Dec 5.


Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease.

Keywords: Haplogroup; Heteroplasmy; Large-scale deletion; Mitochondrial disease; Phylogenetic analysis.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion
  • Genome, Mitochondrial / genetics*
  • Humans
  • Kearns-Sayre Syndrome / genetics*
  • Male
  • Mitochondria / genetics
  • Mutation / genetics
  • Sequence Deletion / genetics*
  • Young Adult


  • DNA, Mitochondrial