Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia

Eur Neurol. 1991;31(2):108-13. doi: 10.1159/000116656.


Kearns-Sayre syndrome has been associated with large heteroplasmic mitochondrial DNA deletions and morphological alterations at the cytological level. We have measured the activities of different respiratory chain complexes in 3 patients presenting mitochondrial DNA deletions and found no close correlation between gene deletions and enzymatic activities. These data, therefore, point out the importance of analyses at the mitochondrial DNA level in such mitochondrial disorders because gross biochemistry may miss any defect.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chronic Disease
  • DNA, Mitochondrial / analysis*
  • Electron Transport Complex IV / metabolism
  • Humans
  • Kearns-Sayre Syndrome / enzymology
  • Kearns-Sayre Syndrome / genetics*
  • Kearns-Sayre Syndrome / pathology
  • Male
  • Middle Aged
  • NADH Dehydrogenase / metabolism
  • Ophthalmoplegia / enzymology
  • Ophthalmoplegia / genetics*
  • Ophthalmoplegia / pathology
  • Sarcolemma / ultrastructure


  • DNA, Mitochondrial
  • NADH Dehydrogenase
  • Electron Transport Complex IV