2012 Fiscal Year Final Research Report
Comprehensive genetic analysis ofParkin gene in psychiatric diseases
| Project/Area Number |
23659568
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Psychiatric science
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| Research Institution | Kagoshima University |
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Principal Investigator |
SANO Akira 鹿児島大学, 大学院・医歯学総合研究科, 教授 (30178800)
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| Co-Investigator(Kenkyū-buntansha) |
NAKAMURA Masayuki 鹿児島大学, 医学部・歯学部附属病院, 講師 (90332832)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 統合失調症 / Parkin遺伝子 / コピー数変異 / ドーパミン調節異常症候群 |
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| Research Abstract |
Homozygous or compound heterozygous Parkinmutations cause autosomal recessive juvenile parkinsonism (ARJP). ARJP patientsand heterozygous Parkinmutant carrier often present with psychiatric diseases as “common diseases” including mood disorder or schizophrenia. We experianced an ARJP patient with dopamine dysregulation syndrome who heterozygously harbored a parkinmutation. In comprehensive genetic analysis of Parkin, we found copy number variations in 3 schizophrenic patients out of fifty.
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[Journal Article] Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis2011
Author(s)
Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupre N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzinska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A
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Journal Title
Am. J. Med. Genet. B Neuropsychiatr. Genet.
Volume: 156
Pages: 620-631
DOI
Peer Reviewed
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