Comprehensive analysis of the genes responsible for neuroacanthocytosis in psychiatric disorders

2010 Fiscal Year Final Research Report

• Project/Area Number: 20390314
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Kagoshima University
• Principal Investigator: SANO Akira Kagoshima University, 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 (90332832)
• Project Period (FY): 2008 – 2010
• Keywords: 有棘赤血球舞踏病 / McLeod症候群 / VPS13A / XK / 気分障害 / 統合失調症 / chorein

Research Abstract

We performed a comprehensive mutation screen of VPS13A and XK, the gene responsible for chorea-acanthocytosis and McLeod syndrome, respectively, in mood disorder and schizophrenia subjects. We identified the existence of several patients with mood disorder or schizophrenia who carry heterozygous, potentially pathogenic mutations in neuroacanthocytosis-related genes. This suggests that neuroacanthocytosis-related-genes might be involved in the pathogenesis of these psychiatric disorders. The results of analyses of interacting protein using mouse brain and RBC ghost suggest that cytoskeletal proteins may interact with chorein, the VPS13A product.

Research Products

• [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, 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
  • Journal Title: Am J Med Genet B Neuropsychiatr Genet 156 Pages: 620-631
  • 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 S, Sano A
  • Journal Title: Neurosci Res 69 Pages: 196-202
  • Peer Reviewed
• [Journal Article] Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations. (2010)
  • Author(s): Miki Y, Nishie M, Ichiba M, Nakamura M, Mori F, Ogawa M, Kaimori M, Sano A, Wakabayashi K
  • Journal Title: Acta Neuropathol 119 Pages: 271-273
  • Peer Reviewed
• [Journal Article] 診断に役立つ遺伝子異常(点突然変異以外) (2010)
  • Author(s): 中村雅之、佐野輝
  • Journal Title: 臨床精神医学 第39巻 Pages: 617-621
• [Journal Article] モデル動物を用いた神経精神疾患の病態解析 (2009)
  • Author(s): 中村雅之, 佐野輝
  • Journal Title: 脳と精神の医学 20 Pages: 243-248
• [Journal Article] 精神神経疾患の遺伝学 -臨床遺伝から分子遺伝学- (2009)
  • Author(s): 佐野輝
  • Journal Title: 精神神経学雑誌 111 Pages: 1537-139
• [Journal Article] 神経有棘赤血球症 (2008)
  • Author(s): 市場美緒、中村雅之、佐野輝
  • Journal Title: 脳と神経 60 Pages: 635-641
• [Presentation] Resequencing and copy number variations analyses for genes responsible for neuroacanthocytosis in subjects with mood disorders and schizophrenia. (2009)
  • Author(s): Shimo H, Nakamura M, Shiokawa N, Tomiyasu A, Ueno S, Sano A
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディエゴ
  • Year and Date: 2009-11-05
• [Presentation] Novel pathogenic mutations and copy number variations of VPS13A in patients with chorea-acanthocytosis. (2009)
  • Author(s): Tomiyasu A, Nakamura M, Shiokawa N, Shimo H, Ichiba M, Ueno S, Sano A
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディエゴ
  • Year and Date: 2009-11-05
• [Book] 症候群ハンドブック(有棘赤血球を伴う舞踏病) (2011)
  • Author(s): 中村雅之、佐野輝
  • Total Pages: 117-121
  • Publisher: 中山書店
• [Book] Neuroacanthocytosis Syndromes II(R. Walker eds.)(chapter 12, 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
  • Total Pages: 153-159
  • Publisher: Springer, Berlin, Germany
• [Book] Neuroacanthocytosis Syndromes II(R. Walker eds.)(chapter 18, Psychiatric morbidity) (2008)
  • Author(s): Sano A
  • Total Pages: 219-223
  • Publisher: Springer, Berlin, Germany