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Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply
Donald L. Schotland, MD;
Salvatore DiMauro, MD;
Eduardo Bonilla, MD;
Antonio Scarpa, PhD;
Chuan-Pu Lee, PhD
Arch Neurol. 1976;33(7):475-479.
Abstract
• A limb muscle biopsy specimen from a patient with a slowly progressive congenital neuromuscular disorder disclosed, by electron microscopy, widespread mitochondrial crystalline inclusions. Biochemical studies of isolated mitochondria showed decreased respiratory rate and respiratory control with both nicotine adenine dinucleotide and flavoprotein-linked substrates. Mitochondrial adenosine triphosphatase (ATPase) activity, both basal and magnesium (Mg++) or 2,4-dinitrophenol- (DNP) stimulated, was greatly reduced in contrast to normal. The rate and extent of mitochondrial calcium accumulation was normal. These findings are consistent with a defect of the respiratory chain-linked energy transfer at a level common to all three energy coupling sites of the respiratory chain. The defect in ATPase activity may be secondary to replacement of functional mitochondrial inner membrane by crystalline inclusions.
Author Affiliations
From the Department of Neurology (Drs Schotland, Bonilla, and DiMauro) and the Johnson Research Foundation (Drs Scarpa and Lee), University of Pennsylvania, School of Medicine, Philadelphia. Dr Scarpa is an Established Investigator of the American Heart Association.
Footnotes
Accepted for publication Oct 9, 1975.
Reprint requests to Department of Neurology, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104 (Dr Schotland).
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