title: Deletions of mitochondrial DNA in Kearns-Sayre syndrome.
abstract: We have identified large-scale deletions in muscle mitochondrial DNA (mtDNA) in seven of seven patients with Kearns-Sayre syndrome (KSS). We found no detectable deletions in the mtDNA of ten non-KSS patients with other mitochondrial myopathies or encephalomyopathies, or three normal controls. The deletions ranged in size from 2.0 to 7.0 kb, and did not localize to any single region of the mitochondrial genome. The proportion of mutated genomes in each KSS patient ranged from 45% to 75% of total mtDNA. There was no correlation between the size or site of the deletion, biochemical abnormality of mitochondrial enzymes, or clinical severity. The data bolster arguments that KSS is a unique disorder and genetic in origin.
authors.affiliation: Department of Neurology, Columbia University, College of Physicians and Surgeons, New York, NY 10032-3784.
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: H
authors.initials: H
authors.lastname: Nakase
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: E A
authors.initials: EA
authors.lastname: Schon
authors.forename: L P
authors.initials: LP
authors.lastname: Rowland
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial; D005260:Female; D005796:Genes; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial