Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
| Autor: | Keiji Kondoh, Akira Sano, Osamu Komure, Yasunori Kotani, F. Hazama, Shu-ichi Ueno, J. Kawai, S. Kuno |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
Myoclonus congenital hereditary and neonatal diseases and abnormalities Cerebellar Ataxia Somatic cell Hybrid Cells Biology Globus Pallidus medicine.disease_cause Atrophy Degenerative disease Intellectual Disability mental disorders Genetics medicine Humans Coding region Molecular Biology Genetics (clinical) Repetitive Sequences Nucleic Acid Mutation Dentatorubral-pallidoluysian atrophy Chromosomes Human Pair 12 Epilepsy Mosaicism Brain Chromosome General Medicine Middle Aged medicine.disease nervous system diseases Microsatellite Nervous System Diseases |
| Zdroj: | Human Molecular Genetics. 4:663-666 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/4.4.663 |
| Popis: | An unstable expansion of CAG repeat in the coding region of the DRPLA gene on chromosome 12p is the mutation specific for hereditary dentatorubral-pallidoluysian atrophy (DRPLA). We studied the CAG expansion in brain and other tissues from six unrelated DRPLA patients. The CAG repeat lengths showed distinct differences between tissues. The sizes of the CAG expansion in various regions of the brain except the cerebellum were generally larger by several repeats than in other peripheral tissues. Brain samples showed greater variation of the expansion compared with other tissues, but neither the size of the CAG expansion nor the degree of CAG repeat variation parallels the detailed findings of neuropathological involvement. We conclude that somatic instabilities of the CAG repeat cause tissue variability of the CAG repeat size in DRPLA but other region or cell type-specific factors would be involved to explain the selectivity of cell damage in DRPLA. |
| Databáze: | OpenAIRE |
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