2001 Fiscal Year Final Research Report Summary
CAG repeat expansion in familial moyamoya disease
| Project/Area Number |
12470284
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Cerebral neurosurgery
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| Research Institution | Tohoku University |
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Principal Investigator |
IKEDA Hidetoshi Tohoku University Hospital, Lecturer, 医学部・附属病院, 講師 (00202896)
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| Co-Investigator(Kenkyū-buntansha) |
KONDO Takeo Tohoku University Hospital, Research Associate, 医学部・附属病院, 助手 (30282130)
AOKI Masashi Tohoku University Hospital, Research Associate, 医学部・附属病院, 助手 (70302148)
YOSHIMOTO Takashi Tohoku University Graduate School of Medicine, Professor, 医学系研究科, 教授 (50091765)
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| Project Period (FY) |
2000 – 2001
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| Keywords | clinical anticipation / CAG repeat diseases / RED method / moyamoya disease / familial |
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| Research Abstract |
To determine whether clinical anticipation found in familial moyamoya family is caused by the genetic molecular mechanism such as CAG repeat expansion, we examine CAG repeat expansion in familial and idiopathic moyamoya diseases. CAG repeat expansion in genomic DNA from 27 cases of familial cases (12 cases with moyamoya disease, 15 cases without moyamoya disease), and 24 cases of idiopathic cases were screened by repeat expansion detecting method. CAG repeat expansion was found in 5 cases in the familial cases, and none in idiopathic cases. The persons with CAG repeat expansion in familial cases were all females, but no correlation with or without moyamoya disease. These results suggest that CAG repeat expansion may influence the background of hereditary factor for familial moyamoya disease, but be not the direct causative factor for moyamoya disease.
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