Mitochondrial Encephalomyopathy inDrosophila
| Autor: | Karolyn F. Buttle, Alicia M. Celotto, Wayne A. Van Voorhies, Adam C Frank, Steven W McGrath, Carmen A. Mannella, Michael J. Palladino, Tim Fergestad |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Mitochondrial encephalomyopathy Genetics Ataxia General Neuroscience Mitochondrial disease Mitochondrial Proton-Translocating ATPases Mitochondrion Biology medicine.disease DNA Mitochondrial Human mitochondrial genetics Drosophila melanogaster Mitochondrial Encephalomyopathies Neurobiology of Disease Retinitis pigmentosa medicine DNAJA3 Animals Drosophila Proteins Point Mutation Female medicine.symptom |
| Zdroj: | The Journal of Neuroscience. 26:810-820 |
| ISSN: | 1529-2401 0270-6474 |
| DOI: | 10.1523/jneurosci.4162-05.2006 |
| Popis: | Mitochondrial encephalomyopathies are common and devastating multisystem genetic disorders characterized by neuromuscular dysfunction and tissue degeneration. Point mutations in the human mitochondrialATP6gene are known to cause several related mitochondrial disorders: NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh's syndrome), and FBSN (familial bilateral striatal necrosis). We identified a pathogenic mutation in theDrosophilamitochondrialATP6gene that causes progressive, adult-onset neuromuscular dysfunction and myodegeneration. Our results demonstrate ultrastructural defects in the mitochondrial innermembrane, neural dysfunction, and a marked reduction in mitochondrial ATP synthase activity associated with this mutation. ThisDrosophilamutant recapitulates key features of the human neuromuscular disorders enabling detailedin vivostudies of these enigmatic diseases. |
| Databáze: | OpenAIRE |
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