Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions
Large-scale deletions of mitochondrial DNA (mtDNA) are associated with a subgroup of mitochondrial encephalomyopathies. We studied seven patients with Kearns-Sayre syndrome or isolated ocular myopathy who harboured a sub-population of partially-deleted mitochondrial genomes in skeletal muscle. Variable cytochrome c oxidase (COX) deficiencies and reduction of mitochondrially-encoded polypeptides were found in affected muscle fibres, but while many COX-deficient fibres had increased levels of mutant mtDNA, they almost invariably had reduced levels of normal mtDNA. Our results suggest that a specific ratio between mutant and wild-type mitochondrial genomes is the most important determinant of a focal respiratory chain deficiency, even though absolute copy numbers may vary widely.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
1992 |
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| Erschienen: |
1992 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:1 |
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| Enthalten in: |
Nature genetics - 1(1992), 5 vom: 14. Aug., Seite 359-67 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Moraes, C T [VerfasserIn] |
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| Anmerkungen: |
Date Completed 09.06.1993 Date Revised 29.01.2022 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM012651281 |
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| 245 | 1 | 0 | |a Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions |
| 264 | 1 | |c 1992 | |
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| 500 | |a Date Completed 09.06.1993 | ||
| 500 | |a Date Revised 29.01.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Large-scale deletions of mitochondrial DNA (mtDNA) are associated with a subgroup of mitochondrial encephalomyopathies. We studied seven patients with Kearns-Sayre syndrome or isolated ocular myopathy who harboured a sub-population of partially-deleted mitochondrial genomes in skeletal muscle. Variable cytochrome c oxidase (COX) deficiencies and reduction of mitochondrially-encoded polypeptides were found in affected muscle fibres, but while many COX-deficient fibres had increased levels of mutant mtDNA, they almost invariably had reduced levels of normal mtDNA. Our results suggest that a specific ratio between mutant and wild-type mitochondrial genomes is the most important determinant of a focal respiratory chain deficiency, even though absolute copy numbers may vary widely | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Research Support, U.S. Gov't, P.H.S. | |
| 650 | 7 | |a DNA Probes |2 NLM | |
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| 700 | 1 | |a Shanske, S |e verfasserin |4 aut | |
| 700 | 1 | |a DiMauro, S |e verfasserin |4 aut | |
| 700 | 1 | |a Schon, E A |e verfasserin |4 aut | |
| 700 | 1 | |a Bonilla, E |e verfasserin |4 aut | |
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