Copy number variation analysis of chorea-acanthocytosis gene in psychiatric disorders

• Project/Area Number: 21591488
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Kagoshima University
• Principal Investigator: NAKAMURA Masayuki 鹿児島大学, 医学部・歯学部附属病院, 講師 (90332832)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2010: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2009: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
• Keywords: 有棘赤血球舞踏病 / VPS13A遺伝子 / chorein / コピー数変異(CNV) / 細胞骨格 / "multiple rare variants-common disease"仮説 / McLeod症候群 / XK遺伝子

Research Abstract

We performed a comprehensive mutation screen of chorea-acanthocytosis(ChAc) gene and identified pathogenic copy number variation and a potentially functional variant in mood disorder subjects. The results of protein analysis of erythrocyte and cultured cell line highly expressing chorein suggest that chorein may interact with cytoskeletal proteins and disruption of these interaction may lead to ChAc or mood disorders.

Research Products

• [Journal Article] Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells (2012)
  • Author(s): Hayashi T, Kishida M, Nishizawa Y, Iijima M, Koriyama C, Nakamura M, Sano A, Kishida S.
  • Journal Title: Biochem. Biophys. Res. Commun Volume: 419 Pages: 511-516
  • 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 Pages: 196-102
  • 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, 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
  • Journal Title: Am. J. Med. Genet. B Neuropsychiatr. Genet. Volume: 156 Pages: 620-631
  • 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
• [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] 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] 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 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] Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations (2009)
  • Author(s): Miki Y, Nishie M, Ichiba M, Nakamura M, Mori F, Ogawa M, Kaimori M, Sano A, Wakabayashi K.
  • Journal Title: Acta Neuropathol. Volume: 119 Pages: 271-273
  • Peer Reviewed
• [Journal Article] ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell line (2009)
  • Author(s): Lianga Y, Jianga H, Ratovitskia T, Jied C, Nakamura M, Hirschhorne RR, Wanga X, Smith WW, Haif T, Poiriera MA, Ross CA
  • Journal Title: Brain Res. 1286 Pages: 221-229
  • 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
• [Presentation] NOVEL PATHOGENIC MUTATIONS AND COPY NUMBER VARIATIONS OF VPS13A IN PATIENTS WITH CHOREA-AC ANTHOCYTOSIS (2009)
  • Author(s): Akiyuki Tomiyasu, Masayuki Nakamura, Nari Shiokawa, Hirochika Shimo, Mio Ichiba, Shu-ichi Ueno^2, Akira Sano
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディエゴ, USA
  • Year and Date: 2009-11-06
• [Presentation] Resequencing and copy number variations analyses for genes responsible for neuroacanthocytosis in subjects with mood disorders and schizophrenia (2009)
  • Author(s): Hirochika Shimo, Masayuki Nakamura, Nari Shiokawa, Akiyuki Tomiyasu, Shu-ichi Ueno, Akira Sano
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディアゴ
  • Year and Date: 2009-11-05
• [Presentation] NOVEL PATHOGENIC MUTATIONS AND COPY NUMBER VARIATIONS OF VPS13A IN PATIENTS WITH CHOREA-ACANTHOCYTOSIS (2009)
  • Author(s): Akiyuki Tomiyasu, Masayuki Nakamura, Nari Shiokawa, Hirochika Shimo, Mio Ichiba, Shu-ichi Ueno, Akira Sano
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディアゴ
  • Year and Date: 2009-11-05
• [Presentation] Resequencing and copy number variations analyses for genes responsible for neuroacanthocytosis in subjects with mood disorders and schizophrenia (2009)
  • Author(s): Hirochika Shimo, Masayuki Nakamura, Nari Shiokawa, Akiyuki Tomiyasu, Shu-ichi Ueno^2, Akira Sano^1
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディエゴ, USA
  • Year and Date: 2009-11-05
• [Presentation] Identification of Mitochondrial DNA Mutations in Three Patients Exhibitinig Neuropyschiatric Symptoms (2009)
  • Author(s): Masayuki Nakamura, Maiko Kato, Akiyuki Tomiyasu, Hirochika Shimo, Akira Sano
  • Organizer: XVII World congress Psychiatric genetics
  • Place of Presentation: サンディエゴ, USA
  • Year and Date: 2009-11-05
• [Book] 精神科キーワード事典(ゲノムCNV) (2011)
  • Author(s): 中村雅之、佐野輝
  • Publisher: 中山書店
• [Book] 症候群ハンドブック5.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McLood 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巻増刊号 (2010)
  • Author(s): 中村雅之、佐野輝
  • Publisher: アークメディア