Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins
| Autor: | J. Emile, K. Josi, C. Desnuelle, Dubas F, Patrick Lestienne, I. Penisson-Besnier, Françoise Degoul |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male Mitochondrial DNA Molecular Sequence Data Respiratory chain Epilepsies Myoclonic Mitochondrion Biology DNA Mitochondrial Polymerase Chain Reaction Genome Electron Transport Complex IV Electron Transport Complex III Sural Nerve Mitochondrial myopathy Multienzyme Complexes Diseases in Twins NAD(P)H Dehydrogenase (Quinone) Twins Dizygotic medicine Humans Genetics Base Sequence Electron Transport Complex II MERRF syndrome Infant medicine.disease Heteroplasmy Mitochondria Muscle Pedigree Succinate Dehydrogenase Oligodeoxyribonucleotides Neurology Mutation Cytochromes Myoclonic epilepsy Female Neurology (clinical) Oxidoreductases |
| Zdroj: | Journal of the Neurological Sciences. 110:144-148 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/0022-510x(92)90021-c |
| Popis: | A new family of myoclonic epilepsy with ragged-red fibers (MERRF) was studied at clinical, histological, biochemical and molecular genetic levels. There was a remarkable variation in the age of onset, the clinical presentation and the severity of symptoms. Multiple defects affecting respiratory chain complexes I, III and IV were detected in 2 patients. The point mutation at 8344 of the mitochondrial genome was found in all the maternal lineage with a relatively narrow range of variation in the percentage of mutant mitochondrial genomes. The one exception was represented by a set of dizygotic twins, one clinically affected and showing high proportions of mutant mitochondrial DNAs (mtDNAs) in blood cells, while the other was asymptomatic and showed very small amounts of mutant mt-DNAs in blood and skin. This could suggest an early segregation of the mitochondrial genome during ovogenesis. |
| Databáze: | OpenAIRE |
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