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NEUROLOGY 1988;38:1339
© 1988 American Academy of Neurology

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

M. Zeviani, MD, C. T. Moraes, MSc, S. DiMauro, MD, H. Nakase, MD, E. Bonilla, MD, E. A. Schon, PhD and L. P. Rowland, MD

Department of Neurology, Columbia University College of Phyaichand Surgeons. H. Hounton Merritt Clinical Research Center for Muscular Dystrophy and Related Dibeases, General Clinical Research Center, and the Neurological Institute of the Columbia-Presbyterian Medical Center

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.

Address correspondence and reprint requests to Dr. DiMauro, Columbia University, College of Physicians and Surgeons, Room 4-420, Columbia-Presbyterian Medical Center, New York, NY 10032-3784.

Supported by CEnter Grants from NINCDS (NS11766); RR-00645; and the Musular dystropy Association. H. N. is supported by a grant from the UeharaScientific Foundation, M.Z. by a grant from the Associazione Italiana per le Ricerche Neurologiche, C.T.M. by the Brazilian Research Council (CNPq), and E.A.S,. by grant from the Aaron Diamond Foundation

Received May 5, 1988. Accepted for publication in final form June 30, 1988.






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