精神障害における神経有棘赤血球症遺伝子群の関わりに関する総合的研究

2008 Fiscal Year Annual Research Report

• Project/Area Number: 20390314
• Research Institution: Kagoshima University
• Principal Investigator: 佐野 輝 Kagoshima University, 大学院・医歯学総合研究科, 教授 (30178800)
• Co-Investigator(Kenkyū-buntansha): 中村 雅之 鹿児島大学, 医学部・歯学部附属病院, 講師 (90332832)
• Keywords: chorea acanthocytosis / VPS13A / chorein / major depressive disorder / shizophrenia / copy number variation

Research Abstract

有棘赤血球舞踏病(Chorea-acanthosis; ChAc)の臨床から分子的研究を精力的に進めており、研究発表の[雑誌論文]の項にもあげている総説の執筆に至っている。平成20年度においては、孤発性の統合失調症100例、感情(気分)障害100例を対象とした検体の採取収集を行うとともに、VPS13A遺伝子73エクソン1およびXK遺伝子に関してすべての直接塩基配列決定法およびreal time PCRを用いたcopy number variationsの解析を網羅的に行っている。Prosaposinの選択的スプライシング産物の顔面神経核での発現をin situ hybridizationを用いて解析した。機能性精神疾患の分子遺伝学研究としては、統合失調症でのNDE1遺伝子多型との非関連性、統合失調症におけるCGHアレイを用いた解析での欠失例、phosphodiesterase 4B遺伝子多型と統含失調症及び大うつ病性障害の関連を明らかにした。

Research Products

• [Journal Article] Positive association of the PDE4B (phosphodiesterase 4B)gene with schizophrenia in the Japanese population. (2009)
  • Author(s): Numata S, Ueno SI, Iga JI, Song H, Nakataki M, Tayoshi S, Sumitani S, Tomotake M, Itakura M, Sano A, Ohmori T
  • Journal Title: J Psychiatr Res 43 Pages: 7-12
  • Peer Reviewed
• [Journal Article] Gene expression and association analyses of the PDE4B (Phosphodiesterase 4B) gene in major depressive disorder in the Japanese Population. (2009)
  • Author(s): Numata S, Iga JI, Nakataki M, Tayoshi S, Taniguchi K, Sumitani S, Tomotake M, Takahashi T, Itakura M, Kamegaya Y, Tatsumi M, Sano A, Asada T, Kunugi H, Ueno SI, Ohmori T
  • Journal Title: Am J Med Genet B Neuropsychiatr Genet (In press)
  • Peer Reviewed
• [Journal Article] Expression patterns in alternative splicing forms of prosaposin mRNA in the rat facial nerve nucleus after facial nerve transection. (2008)
  • Author(s): Chen J, Saito S, Kobayashi N, Sato K, Terashita T, Shimokawa T, Mominoki K, Miyawaki K, Sano A, Matsuda S
  • Journal Title: Neurosci Res 60 Pages: 82-94
  • Peer Reviewed
• [Journal Article] No association between the NDE1 gene and schizophrenia in the Japanese Population. (2008)
  • Author(s): Numata N, Ueno s, Iga J, Nakataki M, Tanahashi T, Itakura M, Sano A, Ohi K, Hashimoto R, Takeda M, Ohmori T
  • Journal Title: Schizophr Res 99 Pages: 367-369
  • Peer Reviewed
• [Journal Article] Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia. (2008)
  • Author(s): Mizuguchi T, Hashimoto R, Itokawa M, Sano A, Shimokawa O, Yoshimura Y, Harada N, Miyake N, Nishimura A, Saitsu H, Sosonkina N, Niikawa N, Kunugi H, Matsumoto N
  • Journal Title: J Hum Genet 53 Pages: 914-919
  • Peer Reviewed
• [Journal Article] 神経有縁赤血球症. (2008)
  • Author(s): 市場美緒, 中村雅之, 佐野輝
  • Journal Title: 神経研究の進歩 60 Pages: 685-641
• [Presentation] Molecular understanding of ChAc using ChAc mouse (2008)
  • Author(s): Sano A
  • Organizer: 4th International Symposium on Neuroacanthocytosis
  • Place of Presentation: London and Oxford, UK
  • Year and Date: 2008-07-02
• [Presentation] Chorein (VPS13A)state and Proteome analysis in chorea-acnthocytosis red blood cells (2008)
  • Author(s): Nakamura M., Sano A
  • Organizer: 4th International Symposium on Neuroacanthocytosis
  • Place of Presentation: London and Oxford, UK
  • Year and Date: 2008-07-02
• [Book] Neuroacanthocytosis Syndromes II (A Mouse Model of Chorea-acanthocytosis) (2008)
  • Author(s): Nakamura M., Katoh Y., Kurano Y., Ichiba M., Matsuda M., Katoh M., Ueno S., Sano A. (R. H. Walker, S. Saiki, A. Danek eds. )
  • Total Pages: 153-160
  • Publisher: Springer, Berlin, Germany
• [Book] Neuroacanthocytosis Syndromes II (Psychiatric Morbidity in Neuroacanthocytosis) (2008)
  • Author(s): Sano A. (R. H. Walker, S. Saiki, A. Danek eds. )
  • Total Pages: 219-223
  • Publisher: Springer, Berlin, Germany