Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy
| Autor: | Alessandro Malandrini, Stefano DiDonato, Massimo Zeviani, Caterina Mariotti, Giancarlo Guazzi, Valeria Tiranti, G. M. Fabrizi |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Proband Mitochondrial encephalomyopathy Mitochondrial DNA X Chromosome Maternal inheritance Genetic Linkage Ragged-red fibres Molecular Sequence Data DNA Encephalomyopathy Heteroplasy Mitochondrial Biology medicine.disease_cause DNA Mitochondrial Repetitive Sequences Mitochondrial myopathy Mitochondrial Encephalomyopathies medicine Humans Point Mutation Aged Repetitive Sequences Nucleic Acid Genetics Mutation Genome Nucleic Acid Base Sequence Genome Human Point mutation medicine.disease Heteroplasmy Pedigree Phenotype Neurology Neurology (clinical) Human |
| Zdroj: | Journal of Neurology. 242:490-496 |
| ISSN: | 1432-1459 0340-5354 |
| DOI: | 10.1007/bf00867418 |
| Popis: | A heteroplasmic insertion of a 9-bp tandem repeat element was detected in the mitochondrial DNA of the maternal members of a large family. The mutation was contained within the non-coding region between the genes specifying subunit II of cytochrome c oxidase and tR-NA(Lys). The proband and most of his maternal relatives were affected by a late-onset mitochondrial encephalomyopathy of variable severity, characterized by a unique combination of symptoms. Extensive screening of a large series of DNA samples, collected from unrelated normal individuals as well as patients affected by different neurological disorders, consistently failed to detect the 9-bp insertion, with two exceptions: a patient suffering from a syndrome virtually identical to that described in our original family and a child affected by bilateral striatal necrosis, a disorder which has been attributed to impairment of mitochondrial oxidative phosphorylation. These considerations suggest that the 9-bp insertion is pathogenic and that the region affected by the mutation may play a previously unsuspected functional role in mtDNA gene expression. |
| Databáze: | OpenAIRE |
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