| Project/Area Number |
13557078
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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 | 展開研究 |
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| Research Field |
Psychiatric science
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| Research Institution | The University of Tokushima (2002)
Ehime University (2001) |
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Principal Investigator |
UENO Shu-ichi The University of Tokushima, School of Medicine, Associate Professor, 医学部, 助教授 (80232768)
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| Co-Investigator(Kenkyū-buntansha) |
中村 雅之 愛媛大学, 医学部・附属病院, 助手 (90332832)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥5,200,000)
Fiscal Year 2002: ¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 2001: ¥3,000,000 (Direct Cost: ¥3,000,000)
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| Keywords | chorea-acanthocytosis / autosomal recessive neurodegerative disorder / linkage study / CHAC gene / polymorphic analysis / 常染色体劣性遺伝 / 連鎖解析 / ハプロタイプ解析 / 関連研究 / 痴呆 |
|---|
| Research Abstract |
Chorea-acanthocytosis (CHAC) is an autosomal recessive neurodegenerative disorder characterized by the severe involuntary movement, mental disorders and the peripheral red blood cell acanthocytosis. Recently, we identified the CHAC gene comprised of over 70 exons on chromosome 9q21-22 and found a 5,937 bp deletion mutation in both alleles of four CHAC patients in three pedigrees from Japanese origin. Some of the obligated carriers had a predominant psychiatric manifestations and this region was reported to be linked to familial amyotrophic lateral sclerosis with front-temporal dementia. So we planed to perform the genetic study between CHAC gene and mental disorders including schizophrenia, mood disorder, Alzheimer disease and front-temporal dementia. For the association study, we found GAT triplet repeat type polymorphism in exon 69 of CHAC gene. We performed the genetic association analysis with both a 5,937 bp deletion mutation and this novel polymorphism. We could not find any significance between them, although there were two mood disorder patients who heterozygously had one 5,937 bp CHAC deletion.
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