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Abnormal activation of private dehydrogenase in Leigh disease fibroblasts

Department of Neurology, Cornell University Medical College, New York, and The Burke Rehabilitation Center, White Plains, NY.

Incubation with dichloroacetate increased activity of the pyruvate dehydrogenase complex (PDHC) in disrupted fibroblasts from controls but not from two patients with autopsy-proved Leigh disease. These results are consistent with a genetically determined aberration of the regulation of PDHC in this disorder, although further studies are necessary to define the aberration.

Address correspondence and reprint requests to Dr. Sorbi, Dementia Research Service, The Burke Rehabilitation Center, 785 Mamaroneck Avenue, White Plains, NY 10605.

Support was from the NIH (grants No. NS15125, NS16994, and AA03883), the Will Rogers Institute, the Winifred Masterson Burke Relief Foundation, and the March of Dimes Birth Defects Foundation (No. 6–215).

Accepted for publication October 12, 1981.

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