title: [Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome].
abstract: BACKGROUND
  Kearns-Sayre syndrome is a multisystem disorder caused by rearrangements of mitochondrial genome including various deletions and/or duplications. The aim of the study is to analyse the impact of mitochondrial DNA (mtDNA) deletions on the mitochondrial energetic metabolism in five patients with Kearns-Sayre syndrome.
  
  
  RESULTS
  The course of the disease is progressive in all patients. All of them have bilateral ptosis and external opthalmoplegia, four have retinitis pigmentosa, three have progressive muscle weakness and three have pacemaker because of complete A-V heart block. One patient underwent renal transplantation at the age of 12 because of a chronic renal failure. Southern blot analysis in muscle tissue revealed large scale heteroplasmic mtDNA deletions (3-7.4 kb) in all patients, the number of mutated copies of mtDNA ranged from 50 to 70%. Spectrophotometric measurements of respiratory chain complexes activities in muscle tissue revealed various combinations of defects of complex III, IV and I + III activities in all patients. Nevertheless, the lactic acidosis was permanently present only in one patient. Ragged-red fibers were found in two patients.
  
  
  CONCLUSIONS
  Although the diagnostic of Kearns-Sayre syndrome is based on clinical features, molecular analysis of mtDNA is necessary to confirm the diagnosis. The prognosis of the disease is unfavourable and co-operation between the patient and various specialists is necessary for the treatment, which is currently only symptomatic.
authors.affiliation: Klinika dĕtského a dorostového lékarství a Centrum integrované genomiky 1. LF UK a VFN, Praha.
authors.forename: M
authors.initials: M
authors.lastname: Capková
authors.forename: M
authors.initials: M
authors.lastname: Tesarová
authors.forename: L
authors.initials: L
authors.lastname: Wenchich
authors.forename: L
authors.initials: L
authors.lastname: Cerná
authors.forename: H
authors.initials: H
authors.lastname: Hansíková
authors.forename: H
authors.initials: H
authors.lastname: Hůlková
authors.forename: E
authors.initials: E
authors.lastname: Hrubá
authors.forename: M
authors.initials: M
authors.lastname: Elleder
authors.forename: J
authors.initials: J
authors.lastname: Zeman
mesh_terms: D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D004734:Energy Metabolism; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism*; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers
vernacular_title: Poruchy mitochondriálního energetického metabolizmu u pacientů s Kearns-Sayreovým syndromem.