Identification of new gene for familial parkinsonism

• Project/Area Number: 22790829
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Juntendo University
• Principal Investigator: FUNAYAMA Manabu 順天堂大学, 医学部, 准教授 (70468578)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2011: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000); Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: 遺伝子 / 変異 / 連鎖 / エクソーム / パーキンソン病 / 多型 / exome / ゲノムワイド / 連鎖解析 / マイクロアレイ

Research Abstract

To identify new genes for familial parkinsonism, two families with late-onset autosomal recessive parkinsonism, who were from the same town, were investigated. Genome-wide linkage analysis and exome analysis showed that these families have uncommon founders. Filtering of variants from exome analysis identified 6 candidate variants for family 1 and 19 candidate variants for family 2.

Research Products

• [Journal Article] Pseudo-heterozygous rearrangement mutation of parkin (2012)
  • Author(s): Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N
  • Journal Title: Mov Disord
  • Peer Reviewed
• [Journal Article] Pseudo-heterozygous rearrangement mutation of parkin (2012)
  • Author(s): Fumayama M, et al
  • Journal Title: Movement Disorders Volume: vol.27 Issue: 4 Pages: 552-555
  • DOI: 10.1002/mds.24906
  • Peer Reviewed
• [Journal Article] パーキンソン病の基礎研究最前線:実地医家のためのminimum requirement (2012)
  • Author(s): 舩山学, 他
  • Journal Title: モダンフィジシャン Volume: 32 Pages: 201-205
• [Journal Article] 遺伝子工学からの恩恵-2□連鎖解析,疾患遺伝子の探索:パーキン遺伝子発見の経緯 (2012)
  • Author(s): 舩山学, 他
  • Journal Title: BIO Clinica Volume: 27 Pages: 90-93
• [Journal Article] DJ-1 associates with synaptic membranes (2011)
  • Author(s): Usami Y, Hatano T, Imai S, Kubo S, Sato S, Saiki S, Fujioka Y, Ohba Y, Sato F, Funayama M, Eguchi H, Shiba K, Ariga H, Shen J, Hattori N
  • Journal Title: Neurobiol Dis Volume: 43 Pages: 651-62
  • Peer Reviewed
• [Journal Article] PLA2G6 variant in Parkinson's disease (2011)
  • Author(s): Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N
  • Journal Title: Hum Genet Volume: 56 Pages: 401-403
  • NAID: 10030659472
  • Peer Reviewed
• [Journal Article] Prevalence of GJB2 Causing Recessive Profound Non-Syndromic Deafness in Japanese Children (2011)
  • Author(s): Hayashi C, Funayama M, Li Y, Kawano A, Suzuki M, Hattori N, Ikeda K
  • Journal Title: Int J Pediatr Otorhinolaryngol Volume: 75 Pages: 211-214
  • Peer Reviewed
• [Journal Article] DJ-1 associates with synaptic membranes (2011)
  • Author(s): Yukiko Usami, Taku Hatano, Satoshi Imai, Shin-ichiro Kubo, Shigeto Sato, Shinji Saiki, Yoichiro Fujioka, Yusuke Ohba, Fumiaki Sato, Manabu Funayama. Hiroto Eguchi, Kaori Shiba, Hiroyoshi Ariga, Jie Shen, Nobutaka Hattori
  • Journal Title: Neurobiology of Disease Volume: 43 Issue: 3 Pages: 651-662
  • DOI: 10.1016/j.nbd.2011.05.014
  • Peer Reviewed
• [Journal Article] Clinical course of the first Asian family with parkinsonism related to SNCA triplication (2010)
  • Author(s): Sekine T, Kagata H, Funayama M, Li Y, Yoshino H, Tomiyama H, Hattori N
  • Journal Title: Mov Disord Volume: 25 Pages: 2871-2875
  • Peer Reviewed
• [Journal Article] Rapid screening of ATP13A2 variant with high-resolution melting analysis (2010)
  • Author(s): Funayama M, Tomiyama H, Wu RM, Ogaki K, Yoshino H, Mizuno Y, Hattori N
  • Journal Title: Mov Disord Volume: 25 Pages: 2434-2437
  • Peer Reviewed
• [Journal Article] Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism (2010)
  • Author(s): Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N
  • Journal Title: Neurology Volume: 75 Pages: 1356-1361
  • Peer Reviewed
• [Journal Article] Impaired in vivo dopamine release in parkin knockout mice (2010)
  • Author(s): Oyama G, Yoshimi K, Natori S, Chikaoka Y, Ren YR, Funayama M, Shimo Y, Takahashi R, Nakazato N, Kitazawa S, Hattori N
  • Journal Title: Brain Research Volume: 1352 Pages: 214-222
  • Peer Reviewed
• [Journal Article] No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients (2010)
  • Author(s): Li L, Funayama M, Tomiyama H, Li Y, Yoshino H, Sasaki R, Kokubo Y, Kuzuhara S, Mizuno Y, Hattori N
  • Journal Title: Neurosci Lett Volume: 479 Pages: 245-248
  • Peer Reviewed
• [Journal Article] A rotarod test for evaluation of motor skill learning. (2010)
  • Author(s): Shiotsuki H, et al.
  • Journal Title: Journal of Neuroscience Methods Volume: 189 Pages: 180-185
  • Peer Reviewed
• [Journal Article] Impaired in vivo dopamine release in parkin knockout mice. (2010)
  • Author(s): Oyama G, et al.
  • Journal Title: Brain Research Volume: 1352 Pages: 214-222
  • Peer Reviewed
• [Journal Article] No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients. (2010)
  • Author(s): Li L, et al.
  • Journal Title: Neuroscience Letters Volume: 479 Pages: 245-248
  • Peer Reviewed
• [Journal Article] Clinical course of the first Asian family with parkinsonism related to SNCA triplication. (2010)
  • Author(s): Sekine T, et al.
  • Journal Title: Movement Disorders Volume: 25 Pages: 2871-2875
  • Peer Reviewed
• [Journal Article] Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. (2010)
  • Author(s): Yoshino H, et al.
  • Journal Title: Neurology Volume: 75 Pages: 1356-1361
  • Peer Reviewed
• [Journal Article] Rapid screening of ATP13A2 variant with high-resolution melting analysis. (2010)
  • Author(s): Funayama M, et al.
  • Journal Title: Movement Disorders Volume: 25 Pages: 2434-2437
  • Peer Reviewed
• [Presentation] Parkin遺伝子のpseudo-heterozygous rearrangement変異 (2011)
  • Author(s): 舩山学, 日下弘道, 吉野浩代, 李元哲, 富山弘幸, 服部信孝
  • Organizer: 第56回日本人類遺伝学会・第11回東アジア人類遺伝学会共同大会
  • Place of Presentation: 幕張メッセ(千葉)
  • Year and Date: 2011-11-11
• [Presentation] Parkin遺伝子のpseudo-heterozygous rearrangement変異 (2011)
  • Author(s): 舩山学, 他
  • Organizer: 第56回日本人類遺伝学会・第11回東アジア人類遺伝学会共同大会
  • Place of Presentation: 幕張メッセ
  • Year and Date: 2011-11-11
• [Presentation] Analyses of compound heterozygous rearrangements of parkin (2011)
  • Author(s): Funayama M, Kusaka H, Yoshino H, Li Y, Ogaki K, Tomiyama H, Hattori N
  • Organizer: ASHG/ICHG 2011 Meeting
  • Place of Presentation: モントリオールコンベンションセンター(モントリオール,カナダ)
  • Year and Date: 2011-10-13
• [Presentation] Clinicogenetic study of patients with FTDP-17(MAPT) in Japan (2011)
  • Author(s): Ogaki K, Li Y, Takanashi1 M, Ishikawa1 K, Kobayashi T, Nakanishi A, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Shioya K, Yokochi M, Sasaki R, Kokubo Y, Kuzuhara S, Motoi Y, Tomiyama H, Hattori N
  • Organizer: ASHG/ICHG 2011 Meeting
  • Place of Presentation: モントリオールコンベンションセンター(モントリオール,カナダ)
  • Year and Date: 2011-10-13
• [Presentation] Analyses of compound heterozygous rearrangements of parkin (2011)
  • Author(s): 舩山学, 他
  • Organizer: ASHG/ICHG 2011 Meeting
  • Place of Presentation: モントリオールコンベンションセンター
  • Year and Date: 2011-10-13
• [Presentation] 常染色体劣性遺伝性パーキンソン病の連鎖解析 (2011)
  • Author(s): 舩山学, 李元哲, 佐竹渉, 吉野浩代, 今道洋子, 富山弘幸, 松浦英治, 野元三治, 有村公良, 戸田達史, 高嶋博, 服部信孝
  • Organizer: 第5回パーキンソン病・運動障害疾患コングレス
  • Place of Presentation: 品川プリンスホテル(東京)
  • Year and Date: 2011-10-07
• [Presentation] 常染色体劣性遺伝性パーキンソン病の連鎖解析 (2011)
  • Author(s): 舩山学, 他
  • Organizer: 第5回パーキンソン病・運動障害疾患コングレス
  • Place of Presentation: 品川プリンスホテル
  • Year and Date: 2011-10-07
• [Presentation] Genetic Analysis for Parkinson's Disease in Juntendo University Tokyo, Japan (2011)
  • Author(s): Funayama M, Tomiyama H, Hattori N
  • Organizer: 2011 Meeting of the Genetic Epidemiology of Parkinson's Disease Consortium
  • Place of Presentation: ノースショア大学(シカゴ,アメリカ合衆国)
  • Year and Date: 2011-09-19
• [Presentation] Genetic Analysis for Parkinson's Disease in Juntendo University, Tokyo, Japan (2011)
  • Author(s): 舩山学, 他
  • Organizer: 2011 Meeting of the Genetic Epidemiology of Parkinson's Disease Consortium
  • Place of Presentation: ノースショア大学
  • Year and Date: 2011-09-19
• [Presentation] SNP chipによる家族性パーキンソン病の連鎖解析と新規原因遺伝子探索 (2011)
  • Author(s): 舩山学, 李元哲, 佐竹渉, 吉野浩代, 今道洋子, 富山弘幸, 松浦英治, 野元三治, 有村公良, 高嶋博, 戸田達史, 水野美邦, 服部信孝
  • Organizer: 第52回日本神経学会総会
  • Place of Presentation: 名古屋国際会議場(名古屋)
  • Year and Date: 2011-05-20
• [Presentation] SNP chipによる家族性パーキンソン病の連鎖解析と新規原因遺伝子探索 (2011)
  • Author(s): 舩山学, 他
  • Organizer: 第52回日本神経学会総会
  • Place of Presentation: 名古屋国際会議場
  • Year and Date: 2011-05-20
• [Presentation] アジア初のα-synuclein遺伝子三重複変異 (2010)
  • Author(s): 舩山学、関根威、加賀谷肇、李元哲、吉野浩代、富山弘幸、服部信孝
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮ソニックシティ(大宮)
  • Year and Date: 2010-10-29
• [Presentation] アジア初のα-synuclein遺伝子三重複変異 (2010)
  • Author(s): 舩山学, ら
  • Organizer: 日本人類遺伝学会 第55回大会
  • Place of Presentation: 大宮ソニックシティ
  • Year and Date: 2010-10-22
• [Presentation] SNCA三重複変異の同定 (2010)
  • Author(s): 舩山学、関根威、加賀谷肇、李元哲、吉野浩代、富山弘幸、服部信孝
  • Organizer: 第4回パーキンソン病・運動障害疾患コングレス
  • Place of Presentation: 京都ホテルオークラ(京都)
  • Year and Date: 2010-10-08
• [Presentation] SNCA三重複変異の同定 (2010)
  • Author(s): 舩山学, ら
  • Organizer: 第4回パーキンソン病・運動障害疾患コングレス
  • Place of Presentation: 京都ホテルオークラ
  • Year and Date: 2010-10-08
• [Presentation] SNP chipによる家族性パーキンソン病のlinkage解析(続報) (2010)
  • Author(s): 舩山学, 吉野浩代, 今道洋子, 李元哲, 松浦英治, 有村公良, 高嶋博, 野元三治, 富山弘幸, 水野美邦, 服部信孝
  • Organizer: 第51回日本神経学会総会
  • Place of Presentation: 東京国際フォーラム(東京)
  • Year and Date: 2010-05-20
• [Presentation] SNP chipによる家族性パーキンソン病のlinkage解析(続報) (2010)
  • Author(s): 舩山学, ら
  • Organizer: 第51回日本神経学会総会
  • Place of Presentation: 東京国際フォーラム
  • Year and Date: 2010-05-20