2002 Fiscal Year Final Research Report Summary
The molecular biological study of the CHAC gene as a novel senile gene.
| 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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| Project Period (FY) |
2001 – 2002
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| Keywords | chorea-acanthocytosis / autosomal recessive neurodegerative disorder / linkage study / CHAC gene / polymorphic analysis |
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| 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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