Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
| Autor: | Matti Haltia, Leena Peltonen, Anna Majander, Anu Suomalainen, Hannu Somer, J. Lonnqvist, M L Savontaus |
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| Rok vydání: | 1992 |
| Předmět: |
Mitochondrial DNA
Pathology medicine.medical_specialty Respiratory chain macromolecular substances Mitochondrion Biology DNA Mitochondrial Polymerase Chain Reaction Oxidative Phosphorylation Intellectual Disability medicine Humans Myopathy Genetics Depressive Disorder Ophthalmoplegia External ophthalmoplegia Multiple mitochondrial DNA deletions Recurrent myoglobinuria Skeletal muscle General Medicine Middle Aged medicine.anatomical_structure medicine.symptom Chromosome Deletion Research Article |
| Zdroj: | The Journal of clinical investigation. 90(1) |
| ISSN: | 0021-9738 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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