Comprehensive analysis of the genes responsible for neuroacanthocytosis in psychiatric disorders

• 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
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥18,720,000 (Direct Cost: ¥14,400,000、Indirect Cost: ¥4,320,000); Fiscal Year 2010: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000); Fiscal Year 2009: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000); Fiscal Year 2008: ¥7,930,000 (Direct Cost: ¥6,100,000、Indirect Cost: ¥1,830,000)
• 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 / Huntington disease-like2 / パントテンキナーゼ関連神経変性疾患 / 統合失調症\ / CNV / 上位運動ニューロン / chorea acanthocytosis / major depressive disorder / shizophrenia / copy number variation

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] Comprehensive analysis of thegenes 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 Pages: 196-202
  • Peer Reviewed
• [Journal Article] Mitochondrial DNA deletion mutations in patients with neuro psychiatric 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 Pages: 331-336
  • Peer Reviewed
• [Journal Article] Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations : A case report and phenotypic comparison with a previously reported case. (2011)
  • Author(s): Hayashi T, Nakamura M, Ichiba M, Matsuda M, Kato M, Shiokawa N, Shimo H, Tomiyasu A, Mori S, Tomiyasu Y, Ishizuka T, Inamori Y, Okamoto Y, Umehara F, Arimura K, Nakabeppu Y, Sano A.
  • Journal Title: Psychiatry Clin Neurosci Volume: 65 Pages: 105-108
  • 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] Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 de1CA and 3970_3973 de1AGTC 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] 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] 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 150B Pages: 527-34
  • Peer Reviewed
• [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] 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
  • NAID: 40016092415
• [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
  • NAID: 10022603067
  • 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] 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
• [Presentation] Integrated approaches of psychiatry and neurology-from a clinical psychiatric perspective- (2009)
  • Author(s): Akira Sano
  • Organizer: 第52回日本神経化学会 シンポジウム「精神医学と神経学の統合的展開」
  • Place of Presentation: 群馬県伊香保温泉
• [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] 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
  • Publisher: 中山書店
• [Book] 5.有棘赤血球を伴う舞踏病/有棘赤血球舞踏病 chorea-acanthocytosis;症候群ハンドブック (2010)
  • Author(s): 中村雅之、佐野輝
  • Publisher: 中山書店
• [Book] 5.有棘赤血球を伴う舞踏病/マックレオド症候群 McLeod syndrome;症候群ハンドブック (2010)
  • Author(s): 中村雅之、佐野輝
  • Publisher: 中山書店
• [Book] 5.有棘赤血球を伴う舞踏病/ハンチントン病類型 Huntington disase-like 2;症候群ハンドブック (2010)
  • Author(s): 中村雅之、佐野輝
  • Publisher: 中山書店
• [Book] 5.有棘赤血球を伴う舞踏病/パントテン酸キナーゼ関連神経変性症 pantothenate kinase neurodegeneration(PKAN);症候群ハンドブック (2010)
  • Author(s): 中村雅之、佐野輝
  • Publisher: 中山書店
• [Book] 5.診断に役立つ遺伝子異常(点突然変異以外);臨床精神医学第39増刊号 (2010)
  • Author(s): 中村雅之、佐野輝
  • Publisher: アークメディア
• [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
  • Publisher: Springer, Berlin, Germany
• [Book] Neuroacanthocytosis Syndromes II(R. Walker eds.)(chapter 18, Psychiatric morbidity) (2008)
  • Author(s): Sano A
  • Publisher: Springer, Berlin, Germany
• [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. )
  • 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. )
  • Publisher: Springer, Berlin, Germany