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NEUROLOGY 1990;40:24
© 1990 American Academy of Neurology

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

S. Shanske, PhD, C. T. Moraes, MSc, A. Lombes, MD, A. F. Miranda, PhD, E. Bonilla, MD, P. Lewis, BA, M. A. Whelan, MD, C. A. Ellsworth, MD and S. DiMauro, MD

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Shanske, Lombes, Miranda, Bonilla, and DiMauro, Mr. Moraes, and Ms. Lewis), Columbia University College of Physicians and Surgeons, New York, and The Mary Imogene Bassett Hospital (Drs. Whelan and Ellsworth), Cooperstown, NY.

We performed Southern analysis of mitochondrial DNA (mtDNA) in 6 tissues from a patient with Kearns-Sayre syndrome and found a single deletion of 4.9 kb in all tissues. The percentage of deleted mtDNAs varied widely between tissues, from only 4% in smooth muscle to approximately 50% in skeletal muscle. Samples of DNA obtained from 3 different skeletal muscles and from separate areas of individual tissues showed little variation in percentage of deleted mtDNA. Biochemical analysis showed no clear correlation between mitochondrial enzyme activity and deleted mtDNAs.

Supported by center grants from NINCDS (NS 11766) and the Muscular Dystrophy Association, and by a generous donation from Libero and Graziella Danesi through the Italian Association for Neurological Research (ARIN). Mr. Moraes is supported by a fellowship from the Brazilian Research Council (CNPq), and Dr. Lombes by fellowships from the Fondation pour la Recherche Medicale, The Ministere Francais des Relations Exterieures, and the Muscular Dystrophy Association.

Address correspondence and reprint requests to Dr. Salvatore DiMauro, 4-420, College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032.

Received April 11, 1989. Accepted for publication in final form June 13, 1989.




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