Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA) |
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Authors: | Ueno, Shu-ichi Kondoh, Keiji Komure, Yasunori Komure, Osamu Kuno, Sadako Kawai, Jun Hazama, Fumitada Sano, Akira |
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Affiliation: | Department of Neuropsychiatry, Ehime University School of Medicine Shigenobu, Onsen-gun, Ehime 79102, Japan 1Department of Neurology, Utano National Hospital Ukyo-ku, Kyoto 616, Japan 2Department of Pathology, Shiga University of Medical Science Ohtsu, Shiga 52021, Japan |
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Abstract: | An unstable expansion of CAG repeat in the coding region ofthe DRPLA gene on chromosome 12p is the mutation specific forhereditary dentatorubralpallidoluysian atrophy (DRPLA). We studiedthe CAG expansion in brain and other tissues from six unre latedDRPLA patients. The CAG repeat lengths showed distinct difterencesbetween tissues. The sizes of the CAG expansion in various regionsof the brain except the cerebellum were generally larger byseveral repeats than in other peripheral tissues. Brain samplesshowed greater variation of the expansion compared with othertissues, but neither the size of the CAG expansion nor the degreeof CAG repeat variation parallels the detailed findings of neuropathologicalinvolvement. We conclude that somatic instabilities of the CAGrepeat cause tissue variability of the CAG repeat size in DRPLAbut other region or cell type-specific factors would be involvedto explain the selectivity of cell damage in DRPLA. |
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