Deletions of mitochondrial DNA in Kearns-Sayre syndrome.

TitleDeletions of mitochondrial DNA in Kearns-Sayre syndrome.
Publication TypeJournal Article
Year of Publication1988
AuthorsZeviani, M, Moraes, CT, DiMauro, S, Nakase, H, Bonilla, E, Schon, EA, Rowland, LP
Date Published1988 Sep
KeywordsAdolescent, Adult, Child, Child, Preschool, DNA, Mitochondrial, Female, Genes, Humans, Kearns-Sayre Syndrome, Male, Ophthalmoplegia

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.

Alternate JournalNeurology
Citation Key10.1212/wnl.38.9.1339
PubMed ID3412580
Grant ListNS11766 / NS / NINDS NIH HHS / United States
RR-00645 / RR / NCRR NIH HHS / United States