Approach to the rare variation hypothesis of the psychiatric disorderby a next generation type ultra high-speed sequencer

2012 Fiscal Year Final Research Report

• Project/Area Number: 22591263
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Nagasaki University
• Principal Investigator: KUROTAKI Naohiro 長崎大学, 医歯薬学総合研究科, 講師 (20423634)
• Co-Investigator(Kenkyū-buntansha): OZAWA Hiroki 長崎大学, 医歯薬学総合研究科, 教授 (50260766) ; IMAMURA Akira 長崎大学, 医歯薬学総合研究科, 准教授 (40325642)
• Co-Investigator(Renkei-kenkyūsha): YOSHIURA Kouichirou 長崎大学, 医歯薬学総合研究科, 教授 (00304931) ; MISHIMA Hiroyuki 長崎大学, 医歯薬学総合研究科, 助教 (10513319)
• Project Period (FY): 2010 – 2012
• Keywords: 遺伝子 / マイクロアレイ / 精神疾患 / 稀少変異仮説 / ホモ接合マッピング / Runs of homozygosity

Research Abstract

We performed the molecular analysis of psychiatric diseases including schizophrenia and bipolar disorders. In this analysis, several novel loci were detected. Possible loci were chromosomes 1, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 16, 17,19, 20, and 21. Interestingly, just one locus had been reported. Their region concluded more than 200 genes. Also, we show that SCZ is highly heterogeneous.

Research Products

• [Journal Article] Modified electroconvulsive therapy for the treatment of refractory schizophrenia-like psychosis associated with Huntington's disease (2013)
  • Author(s): Nakano T, Ono S, Yamaguchi J, Sugimoto R, Yamaguchi N, Morimoto Y, Kubo T, Ozawa H, Kurotaki N
  • Journal Title: J Neurol Volume: 260(1) Pages: 312-4
• [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features (2012)
  • Author(s): Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N
  • Journal Title: J Hum Genet Volume: 57(3) Pages: 207-11
• [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions (2012)
  • Author(s): Ono S, Yoshiura KI, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N
  • Journal Title: J Hum Genet Volume: 57(5) Pages: 338-41
• [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions (2012)
  • Author(s): Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N
  • Journal Title: J Hum Genet, Jun Volume: 57(6) Pages: 399
• [Journal Article] 一卵性双生児精神疾患不一致例によるコピー数解析 (2012)
  • Author(s): 今村明, 小野慎治, 辻田高弘, 橋田あおい, 黒滝直弘, 小澤寛樹, 岡崎祐史士
  • Journal Title: 日本生物学的精神医学会誌 Volume: 23(1) Pages: 23-28
• [Journal Article] 【災害と精神医学】 雲仙・普賢岳噴火災害被災住民の長期経過後の精神的問題 被災後13年後調査より (2012)
  • Author(s): 木下裕久, 太田保之, 中根秀之, 一ノ瀬仁志, 黒滝直弘, 小澤寛樹
  • Journal Title: 臨床精神医学 Volume: 41(9) Pages: 1293-1298
• [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families (2011)
  • Author(s): Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
  • Journal Title: Mov Disord Volume: 26(4) Pages: 761-763
  • DOI: doi:10,1002/mds,23475,Epub2011Feb10
• [Journal Article] Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy (2011)
  • Author(s): Kubo T, Horai S, Ozawa H, Kurotaki N
  • Journal Title: Psychiatry Clin Neurosci Volume: 65(4) Pages: 397
• [Journal Article] Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis (2011)
  • Author(s): Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Ozawa H
  • Journal Title: PLoS one Volume: 6(5) Pages: e20589
• [Journal Article] Three cases of schizophrenia showing improvement after switching to blonanserin (2011)
  • Author(s): Kurotaki N, Nobata H, Nonaka S, Nishihara K, Ozawa H
  • Journal Title: Psychiatry Clin Neurosci Volume: 65(4) Pages: 396-397
• [Journal Article] わたしのカルテから 内因性精神病を疑われた大脳皮質基底核変性症の2例 (2011)
  • Author(s): 森本芳郎, 久保達哉, 黒滝直弘, 小澤寛樹
  • Journal Title: 九州神経精神医学 Volume: 57(3,4) Pages: 172-174
• [Journal Article] Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia (2010)
  • Author(s): Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y
  • Journal Title: Twin Res Hum Genet Volume: 13(5) Pages: 455-460
• [Journal Article] Could subclinical hypothyroidism cause periodic catatonia with delusional misidentification syndrome? (2010)
  • Author(s): Nishihara K, Kinoshita H, Kurotaki N, Ozawa H, Imamura A
  • Journal Title: Psychiatry Clin Neurosci Volume: 64(3) Pages: 338
• [Journal Article] DNAマイクロアレイを用いた統合失調症のホモ接合マッピング (2010)
  • Author(s): 黒滝直弘, 三嶋博之, 田崎信也, 菊池妙子, 西田奈央, 徳永勝士, 吉浦孝一郎, 小澤寛樹
  • Journal Title: 精神薬療研究年報 Volume: 42 Pages: 31-32
• [Journal Article] 私の論文からHaploinsufficiency of NSD1 causes Sotos syndrome (2010)
  • Author(s): 黒滝直弘
  • Journal Title: 九州神経精神医学 Volume: 56(3,4) Pages: 190-197