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Brain, Vol. 113, No. 2, 419-432, 1990
© 1990 Oxford University Press

research-article

A MITOCHONDRIAL ENCEPHALOMYOPATHY WITH SPECIFIC DEFICIENCIES OF TWO RESPIRATORY CHAIN POLYPEPTIDES AND A CIRCULATING AUTOANTIBODY TO A MITOCHONDRIAL MATRIX PROTEIN

A. H. V. SCHAPIRA1,, J. M. COOPER1,2, L. MANNESCHI2, C. VITAL3, J. A. MORGAN-HUGHES1 and J. B. CLARK2

1Institute of Neurology Queen Square, London, UK 2Department of Biochemistry, St Bartholomew's Hospital Medical College London, UK 3Pathology Laboratory, Hôpital Pellegrin, University of Bordeaux Bordeaux, France

Correspondence to: Correspondence to: Dr A. H. V. Schapira, Institute of Neurology, National Hospital, Queen Square, London WCIN 3BG, UK.

A 15-yr-old boy with mitochondrial encephalomyopathy and NADH CoQ reductase (Complex 1) deficiency is presented. Immunoblotting demonstrated specific deficiencies of the 24 kDa FeS protein of Complex I and subunit II of Complex IV. The patient's serum contained an antibody to a specific mitochondrial matrix polypeptide of apparent Mr 41 kDa. The specific polypeptide deficiencies involve products of nuclear (24 kDa FeS protein) and mitochondrial (subunit II) genes and suggest some intergenomic regulation. The relevance of the circulating antibody to the pathogenesis of the patient's Complex I deficiency is discussed.

Received February 17, 1989. Revised May 5, 1989. Accepted May 15, 1989.


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