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NEUROLOGY 1998;51:1525
© 1998 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

From the Department of Neurology, Columbia University College of Physicians and Surgeons, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, General Clinical Research Center, and the Neurological Institute of the Columbia-Presbyterian Medical Center.

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.

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.

Footnotes

Supported by Center Grants from NINCDS (NS11766); RR-00645; and the Muscular Dystrophy Association. H.N. is supported by a grant from the Uehara Scientific 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 a grant from the Aaron Diamond Foundation.

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

American Academy of Neurology Dedicated to advancing the art and science of neurology, and thereby promoting the best possible care for patients with neurological disorders; A Celebration of the First 50 Years of the American Academy of Neurology






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