Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease
| Autor: | Zeviani, M., Nereo Bresolin, Gellera, C., Bordoni, A., Pannacci, M., Amati, P., Moggio, M., Servidei, S., Scarlato, G., Didonato, S. |
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| Jazyk: | angličtina |
| Rok vydání: | 1990 |
| Předmět: |
Adult
DNA Replication Male Adolescent Molecular Sequence Data DNA Mitochondrial Polymerase Chain Reaction Chromosomes Muscular Diseases Chromosomes Human Humans Dominant Polymorphism Southern Genes Dominant Cell Nucleus Ophthalmoplegia Base Sequence Blotting DNA Middle Aged Mitochondria Muscle Mitochondrial Mitochondria Pedigree Blotting Southern Restriction Fragment Length Female Mutation Polymorphism Restriction Fragment Length Chromosome Deletion Genes Muscle Research Article Human |
| Zdroj: | Scopus-Elsevier Publons |
| Popis: | We studied several affected and one nonaffected individuals belonging to three unrelated pedigrees. The pathological trait was an autosomal dominant mitochondrial myopathy due to large-scale multiple deletions of the mitochondrial genome. Clinically, symptomatic patients had progressive external ophthalmoplegia, muscle weakness and wasting, sensorineural hypoacusia, and, in some cases, vestibular areflexia and tremor. The muscle biopsies of all patients examined showed ragged-red fibers, neurogenic changes, and a partially decreased histochemical reaction to cytochrome c oxidase. Multiple mtDNA heteroplasmy was detected in the patients by both Southern blot analysis and PCR amplification, whereas the unaffected individual had the normal homoplasmic hybridization pattern. These findings confirm and add further details to the existence of a new human disease--defined clinically as a mitochondrial myopathy, genetically as a Mendelian autosomal dominant trait, and molecularly by the accumulation of multiple, large-scale deletions of the mitochondrial genome--that is due to impaired nuclear control during mtDNA replication. |
| Databáze: | OpenAIRE |
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