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Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA (Ms. Zheng, Ms. Lott, and Dr. Wallace)
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA (Drs. Krawiecki, Winn, and Wallace)
Department of Neurology, Emory University School of Medicine, Atlanta, GA (Drs. Shoffner, Krawiecki, and Wallace)
Department of Nephrology (Dr. Voljavec), Emory University School of Medicine, Atlanta, GA.

A child died at 4 months of age of a lethal infantile mitochondrial disease associated with cardiomyopathy. Detailed pathologic evaluation of this patient revealed abnormalities in the striated muscle, smooth muscle, heart, and liver, but not the central nervous system. Biochemical analysis revealed a combined complex I and IV deficiency in skeletal muscle, heart, and liver, but not in kidney and brain. Analysis of mitochondrial translation products and mitochondrial DNA failed to detect any abnormality. Parallel studies on both parents were uniformly normal. These data support the hypothesis that this disease was the result of a nuclear DNA mutation in a developmental stage-specific and tissue-specific oxidative phosphorylation gene.

Address correspondence and reprint requests to Dr. Wallace, Department of Biochemistry, 109 Woodruff Memorial Building, Emory University School of Medicine, Atlanta, GA 30322.

Supported by a Muscular Dystrophy Foundation Clinical Research Grant and an Emory University Department of Pediatrics grant awarded to D.C.W.

Received November 23, 1988. Accepted for publication in final form March 28, 1989.

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