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Research Article Free access | 10.1172/JCI115856

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.

A Suomalainen, A Majander, M Haltia, H Somer, J Lönnqvist, M L Savontaus, and L Peltonen

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

Find articles by Suomalainen, A. in: PubMed | Google Scholar

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

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Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

Find articles by Haltia, M. in: PubMed | Google Scholar

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

Find articles by Somer, H. in: PubMed | Google Scholar

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

Find articles by Lönnqvist, J. in: PubMed | Google Scholar

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

Find articles by Savontaus, M. in: PubMed | Google Scholar

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

Find articles by Peltonen, L. in: PubMed | Google Scholar

Published July 1, 1992 - More info

Published in Volume 90, Issue 1 on July 1, 1992
J Clin Invest. 1992;90(1):61–66. https://doi.org/10.1172/JCI115856.
© 1992 The American Society for Clinical Investigation
Published July 1, 1992 - Version history
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Abstract

Multiple deletions of mitochondrial DNA (mtDNA) have recently been reported in familial progressive external ophthalmoplegia (PEO), in a case of progressive encephalomyopathy, and in inherited recurrent myoglobinuria. The inheritance of familial PEO has been autosomal dominant, which indicates that a mutation in an unknown nuclear gene results in several mtDNA deletions of different sizes in these patients. We report a patient with autosomal dominant PEO, whose major clinical symptom, however, was severe retarded depression. The morphological analyses of the tissue samples derived from autopsy showed various abnormalities in the mitochondria in all the tissues studied. The activities of the respiratory chain enzymes encoded by mtDNA were remarkably reduced in the skeletal muscle. The mtDNA analyses confirmed that besides myopathy, this patient had a multisystem disorder with widespread distribution of multiple deletions of mtDNA. The highest percentage of mutated mtDNA was found in the brain, skeletal muscle and the heart, the relative quantity of mutated mtDNA correlating to the severity of the clinical symptoms.

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