Comprehensive genetic analysis ofParkin gene in psychiatric diseases

• Project/Area Number: 23659568
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Kagoshima University
• Principal Investigator: SANO Akira 鹿児島大学, 大学院・医歯学総合研究科, 教授 (30178800)
• Co-Investigator(Kenkyū-buntansha): NAKAMURA Masayuki 鹿児島大学, 医学部・歯学部附属病院, 講師 (90332832)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• 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 / 網羅的解析

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.

Research Products

• [Journal Article] ドパミン調節異常症候群 (2013)
  • Author(s): 林 岳宏, 佐野 輝
  • Journal Title: 分子精神医学 Volume: 13
• [Journal Article] Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells (2012)
  • Author(s): Hayashi T., et al
  • Journal Title: Biochem.Biophys.Res.Commun. Volume: 419巻 Issue: 3 Pages: 511-516
  • DOI: 10.1016/j.bbrc.2012.02.047
  • Peer Reviewed
• [Journal Article] Familial Semantic Dementia with P301L Mutation in the Tau Gene (2011)
  • Author(s): Ishizuka T, Nakamura M, Ichiba M, et al
  • Journal Title: Dement Geriatr Cogn Disord Volume: 31 Issue: 5 Pages: 334-340
  • DOI: 10.1159/000328412
  • Peer Reviewed
• [Journal Article] Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms (2011)
  • Author(s): Kato M, Nakamura M, Ichiba M, Tomiyasu A, Shimo H, Higuchi I, Ueno S, Sano A
  • Journal Title: Neurosci Res Volume: 69 Issue: 4 Pages: 331-336
  • DOI: 10.1016/j.neures.2010.12.013
  • Peer Reviewed
• [Journal Article] Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia (2011)
  • Author(s): Shimo H, Nakamura M, Tomiyasu A, Ichiba M, Ueno SI, Sano A
  • Journal Title: Neurosci. Res Volume: 69 Issue: 3 Pages: 196-202
  • DOI: 10.1016/j.neures.2010.12.001
  • Peer Reviewed
• [Journal Article] Chronological changes in prosaposin in the developing rat brain (2011)
  • Author(s): Xue, et al
  • Journal Title: Neurosci Res Volume: 71 Issue: 1 Pages: 22-34
  • DOI: 10.1016/j.neures.2011.06.001
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive exteraal ophthalmoplegia (2011)
  • Author(s): Takata A, Kato M, Nakamura M, et al
  • Journal Title: Genom Biol Volume: 12 Issue: 9
  • DOI: 10.1186/gb-2011-12-9-r92
  • Peer Reviewed
• [Journal Article] Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree (2011)
  • Author(s): Mori S, Nakamura M, Yasuda T, et al
  • Journal Title: Jounal of Human Genetics Volume: 56 Issue: 10 Pages: 743-747
  • DOI: 10.1038/jhg.2011.93
  • NAID: 10030661426
  • Peer Reviewed
• [Journal Article] Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis (2011)
  • Author(s): Tomiyasu A, Nakamura M, Ichiba M, et al
  • Journal Title: Am J Med Genet B Neuropsychiatr Genet Volume: 156 Issue: 5 Pages: 620-631
  • DOI: 10.1002/ajmg.b.31206
  • Peer Reviewed
• [Presentation] Chorein is involved in exocytosis of dene core vesicles in differentiated PC12 cells (2012)
  • Author(s): Hayashi T, Kishida M, Nishizawa Y, Iijima M, Koriyama C, Nakamura M, Sano A, Kishida S
  • Organizer: 11thbiennial meeting of the Asian Pacific Society for Neurochemistry /55thMeeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe Japan
• [Presentation] Chorein interacts with cytoskeltal proteins in HEK293 cells (2012)
  • Author(s): Deguchi A, Nakamura M, Shiokawa N, Sasaki N, Sano A
  • Organizer: 11thbiennial meeting of the Asian Pacific Society for Neurochemistry /55thMeeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe Japan
• [Presentation] Proteomics approach to identify chorein-interacting proteins (2012)
  • Author(s): Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Sano A
  • Organizer: 11thbiennial meeting of the Asian Pacific Society for Neurochemistry /55thMeeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe Japan
• [Presentation] Assessing heteroplasmic load of mitochondrial DNA C1624T mutation in mother and child cases with neuropsychiatric symptoms (2011)
  • Author(s): Sangatsuda Y, Nakamura M, Ueno S, Goto Y, Sano A
  • Organizer: The 5th Biennial Meeting of Society for Free Radical Research-Asia (SFRR-Asia), 8th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM), and 11th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit)
  • Place of Presentation: Kagoshima
• [Presentation] 舞踏病原因遺伝子VPS13A変異による精神障害発症機構 (2011)
  • Author(s): 佐野輝
  • Organizer: 第54回日本神経化学会年会 シンポジウム
  • Place of Presentation: 石川県山代温泉 瑠璃光
• [Book] 現代精神医学辞典 （分担部分：クリューヴァー＝ビューシー症候群、神経化学、進行性ミオクローヌスてんかん、トリヌクレオチドリピート、ハンチントン病、ヒョレアアカントサイトーシス、ヒョレア症候群、ファール病、ペラグラ精神病、ミトコンドリア脳筋症） (2011)
  • Author(s): 佐野輝
  • Total Pages: 5
  • Publisher: 弘文堂