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Mitochondrial studies in Kearns-Sayre syndrome

Normal respiratory chain function with absence of a mitochondrial translation product

Department of Neurology (Dr. Byrne and Mr. Trounce), St. Vincent's Hospital; the Department of Biochemistry (Dr. Marzuki and Mr. Sattayasai), Monash University; and the Royal Children's Hospital (Dr. Dennett), Melbourne, Australia.

Intact mitochondria were isolated from skeletal muscle of two patients with Kearns-Sayre syndrome (retinitis pigmentosa, heart block, chronic external ophthalmoplegia), and mitochondrial protein translation was measured. Mitochondrial protein synthesis was up to 10 times greater than in control subjects and SDS-polyacrylamide gel electrophoresis revealed absence of a translation product with the mobility of a 5 KDa protein. State 3 respiration rates were normal with site 1 and site 2 substrates, suggesting that the absent protein was not a functional subunit of a respiratory chain complex.

Address correspondence and reprint requests to Dr. Byrne, Department of Neurology, St. Vincent's Hospital, 41 Victoria Parade, Fitzroy 3065, Melbourne, Australia.

Supported in part by grant 83/2670 from the Australian National Health and Medical Research Council to S.M.

Received July 28, 1986. Accepted for publication in final form December 12, 1986.