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Aim to detect a novel pathogenic mutation in a familial Parkinson's disease

Research Project

Project/Area Number 16K09678
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionJuntendo University

Principal Investigator

Nishioka Kenya  順天堂大学, 医学部, 准教授 (40348933)

Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywordsパーキンソン病 / 遺伝子 / 神経変性疾患 / 遺伝子変異 / 次世代シーケンサー
Outline of Final Research Achievements

We aim to detect a novel pathogenic mutation among a family presenting a high concentration of Parkinson's disease (PD). We used whole genome sequencing (HiSeq2500 sequencer) and focus on 46 candidate gene from the family. Following, we established ion Torrent system to screen 46 candidate gene for 50 familial PD. As a result, we detected 10 genes as a further candidate pathogenic gene, which are AHDC1, AP2A2, FBLN2, KIAA0947, NRAP, OLFML2B, TM6SF1, FLG-AS1, HMCN2, MUC19. Next, we will plan to add more samples to confirm the genetic risk factor of the onset of PD.

Academic Significance and Societal Importance of the Research Achievements

パーキンソン病(PD)は、振戦、固縮、歩行困難、動作緩慢といった運動症状を主体とした加齢が重要な危険因子の疾患である。超高齢社会に伴い、その患者数は今後益々増加することが予想される。人口構成の高齢化に伴い、その有病率は増加の一途を辿っている。更なる病態解明と分子レベルにおける新規治療薬の開発そして疾患修飾療法が望まれる。これまで遺伝性PD研究は孤発型PDの病態解明へ重要なヒントを提供しており、病態解明への近道である。今回我々は常染色体優性遺伝形式をとり、既知の遺伝子変異を持たないPD の一家系に注目し、全ゲノムシーケンスを施行し、病的遺伝子の探索を行う.

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (37 results)

All 2019 2018 2017 2016 Other

All Int'l Joint Research (4 results) Journal Article (17 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 17 results,  Open Access: 7 results,  Acknowledgement Compliant: 1 results) Presentation (9 results) (of which Int'l Joint Research: 7 results) Book (4 results) Remarks (3 results)

  • [Int'l Joint Research] University of British Columbia(Canada)

    • Related Report
      2017 Research-status Report
  • [Int'l Joint Research] University of British Columbia(Canada)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] Luxemburg University(ルクセンブルク)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] ICM Hospital Pitie Salpetriere(France)

    • Related Report
      2016 Research-status Report
  • [Journal Article] Tau aggregation and seeding analyses of two novel MAPT variants found in patients with motor neuron disease and progressive parkinsonism.2019

    • Author(s)
      Nakayama S, Shimonaka S, Elahi M, Nishioka K, Oji Y, Matsumoto SE, Li Y, Yoshino H, Mogushi K, Hatano T, Sato T, Ikura T, Ito N, Motoi Y, Hattori N.
    • Journal Title

      Neurobiology of Aging

      Volume: 19 Pages: 240.e13-240.e22

    • DOI

      10.1016/j.neurobiolaging.2019.02.016

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features2019

    • Author(s)
      Ikeda Aya、Shimada Hitoshi、Nishioka Kenya、Takanashi Masashi、Hayashida Arisa、Li Yuanzhe、Yoshino Hiroyo、Funayama Manabu、Ueno Yuji、Hatano Taku、Sahara Naruhiko、Suhara Tetsuya、Higuchi Makoto、Hattori Nobutaka
    • Journal Title

      Movement Disorders

      Volume: 34 Issue: 4 Pages: 568-574

    • DOI

      10.1002/mds.27623

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations2018

    • Author(s)
      Takanashi M, Funayama M (Contributed equally), Matsuura E, Yoshino H, Li Y, Tsuyama S, Takashima H, Nishioka K, Hattori N
    • Journal Title

      Acta Neuropathologica Communications

      Volume: 6 Issue: 1 Pages: 105-105

    • DOI

      10.1186/s40478-018-0617-y

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.2018

    • Author(s)
      Yoshino H, Nishioka K, Li Y, Oji Y, Oyama G, Hatano T, Machida Y, Shimo Y, Hayashida A, Ikeda A, Mogushi K, Shibagaki Y, Hosaka A, Iwanaga H, Fujitake J, Ohi T, Miyazaki D, Sekijima Y, Oki M, Kusaka H, Fujimoto KI Ugawa Y, Funayama M, Hattori N.
    • Journal Title

      Journal of Neurology

      Volume: 265(8) Issue: 8 Pages: 1860-1870

    • DOI

      10.1007/s00415-018-8930-8

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] COQ2 variants in Parkinson's disease and multiple system atrophy.2018

    • Author(s)
      Mikasa M, Kanai K, Li Y, Yoshino H, Mogushi K, Hayashida A, Ikeda A, Kawajiri S, Okuma Y, Kashihara K, Sato T, Kondo H, Funayama M, Nishioka K, Hattori N.
    • Journal Title

      J Neural Transm (Vienna)

      Volume: - Issue: 6 Pages: 938-944

    • DOI

      10.1007/s00702-018-1885-1

    • Related Report
      2018 Annual Research Report 2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic analysis of TMEM230 in Japanese patients with familial Parkinson’s disease.2018

    • Author(s)
      Conedera SA, Li Y, Funayama M, Yoshino H, Nishioka K, Hattori N.
    • Journal Title

      Parkinsonism Relat Disord

      Volume: 48 Pages: 107-108

    • DOI

      10.1016/j.parkreldis.2017.12.020

    • Related Report
      2018 Annual Research Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Association between abnormal nocturnal blood pressure profile and dementia in Parkinson's disease.2018

    • Author(s)
      Tanaka R, Shimo Y, Yamashiro K, Ogawa T, Nishioka K, Oyama G, Umemura A, Hattori N.
    • Journal Title

      Parkinsonism and Related Disorders

      Volume: 46 Pages: 24-29

    • DOI

      10.1016/j.parkreldis.2017.10.014

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Marked reduction in striatal dopamine transporter uptake during the early stage of motor symptoms in patients with the MAPT N279K mutation2018

    • Author(s)
      Takeshige H, Nakayama S, Nishioka K, Li Y, Motoi Y, Hattori N.
    • Journal Title

      Internal Medicine

      Volume: in press

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] DNAJC12 and dopa-responsive nonprogressive parkinsonism.2017

    • Author(s)
      Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Sold, G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S.
    • Journal Title

      Annals of Neurology

      Volume: 82 Issue: 4 Pages: 640-646

    • DOI

      10.1002/ana.25048

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Homozygous alpha-synuclein p.A53V in familial Parkinson's disease.2017

    • Author(s)
      Yoshino H, Hirano M, Stoessl AJ, Imamichi Y, Ikeda A, Li Y, Funayama M, Yamada I, Nakamura Y, Sossi V, Farrer MJ, Nishioka K, Hattori N.
    • Journal Title

      Neurobiology of Aging

      Volume: 57 Pages: 248.e7-248.e12

    • DOI

      10.1016/j.neurobiolaging.2017.05.022

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel mutation of CHCHD2 p.R8H in a sporadic case of Parkinson's disease2017

    • Author(s)
      Ikeda, Aya; Matsushima, Takashi; Daida, Kensuke; Nakajima, Sho; Conedera, Silvio; Li, Yuanzhe; Yoshino, Hiroyo; Oyama, Genko; Funayama, Manabu; Nishioka, Kenya; Hattori, Nobutaka
    • Journal Title

      PARKINSONISM & RELATED DISORDERS

      Volume: 34 Pages: 66-68

    • DOI

      10.1016/j.parkreldis.2016.10.018

    • Related Report
      2017 Research-status Report 2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] <i>CSF1R</i> Mutation p.G589R and the Distribution Pattern of Brain Calcification2017

    • Author(s)
      Daida K, Nishioka K, Li Y, Nakajima S, Tanaka R, Hattori N.
    • Journal Title

      Internal Medicine

      Volume: 56 Issue: 18 Pages: 2507-2512

    • DOI

      10.2169/internalmedicine.8462-16

    • NAID

      130006078597

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genotype-phenotype correlations of cysteine replacement in CADASIL2017

    • Author(s)
      Matsushima, Takashi; Conedera, Silvio; Tanaka, Ryota; Li, Yuanzhe; Yoshino, Hiroyo; Funayama, Manabu; Ikeda, Aya; Hosaka, Yuka; Okuzumi, Ayame; Shimada, Yoshiaki; Yamashiro, Kazuo; Motoi, Yumiko; Nishioka, Kenya; Hattori, Nobutaka
    • Journal Title

      NEUROBIOLOGY OF AGING

      Volume: 50 Pages: 169.e7-169.e14

    • DOI

      10.1016/j.neurobiolaging.2016.10.026

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] FBXO7 mutations in Parkinson's disease and multiple system atrophy.2016

    • Author(s)
      Conedera S, Apaydin H, Li Y, et al.
    • Journal Title

      Neurobiol Aging.

      Volume: 40 Pages: 192.e1-192.e5

    • DOI

      10.1016/j.neurobiolaging.2016.01.003

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.2016

    • Author(s)
      Suzuki A, Shibata N, Kasanuki K, et al.
    • Journal Title

      Dement Geriatr Cogn Dis Extra.

      Volume: 16 Issue: 1 Pages: 90-97

    • DOI

      10.1159/000444080

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Schizophrenia as a prodromal symptom in a&nbsp;patient harboring SNCA duplication.2016

    • Author(s)
      Takamura S, Ikeda A, Nishioka K, Furuya H, Tashiro M, Matsushima T, Li Y, Yoshino H, Funayama M, Morinobu S, Hattori N.
    • Journal Title

      Parkinsonism Relat Disord.

      Volume: S1353-8020 Pages: 30028-1

    • DOI

      10.1016/j.parkreldis.2016.01.028

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic association between RAGE polymorphisms and Alzheimer's disease and Lewy body dementias in a Japanese cohort: a case-control study.2016

    • Author(s)
      Takeshita Y, Shibata N, Kasanuki K, Nagata T, Shinagawa S, Kobayashi N, Ohnuma T, Suzuki A, Kawai E, Takayama T, Nishioka K, Motoi Y, Hattori N, Nakayama K, Yamada H, Arai H.
    • Journal Title

      International Journal of Geriatric Psychiatry

      Volume: 4 Issue: 12 Pages: 1241-1246

    • DOI

      10.1002/gps.4600

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Presentation] Brain pathology, functional analysis and fly models of CHCHD2 p.T61I2018

    • Author(s)
      Kenya Nishioka1, Aya Ikeda, Hongrui Meng, Masashi Takanashi, Hiroyo Yoshino, Yuanzhe Li, Yuzuru Imai, Manabu Funayama, Nobutaka Hattori
    • Organizer
      Genetic Epidemiology of Parkinson's Disease, Paris, 2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Comprehensive study of LRRK2 mutations in familial Parkinson's disease in Japan2018

    • Author(s)
      Kenya Nishioka, Aya Ikeda, Hiroyo Yoshino, Yuanzhe Li, Manabu Funayama, Nobutaka Hattori
    • Organizer
      日本人類遺伝学会 第63回大会
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Digenic mutations of parkin-PINK1, PINK1-LRRK2, and LRRK2-PINK1 in familial Parkinson’s disease2018

    • Author(s)
      Kenya Nishioka, Yuanzhe Li, Hiroyo Yoshino, Arisa Hayashida, Aya Ikeda, Kotaro Ogaki, Manabu Funayama, Nobutaka Hattori
    • Organizer
      第50回日本神経学会学術大会
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] HOMOZYGOUS ALPHA-SYNUCLEIN A53V IN FAMILIAL PARKINSON'S DISEASE2017

    • Author(s)
      Kenya Nishioka, Makito Hirano, A. Jon Stoessl, Hiroyo Yoshino, Yoko Imamichi, Aya Ikeda, Yuanzhe Li, Manabu Funayama, Ikuko Yamada, Yusaku Nakamura, Vesna Sossi, Matthew J. Farrer, Nobutaka Hattori.
    • Organizer
      The XXIII World Congress of Neurology
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] The correlation of CHCHD2 mutations and alpha-synculein in the brain pathology and fly models2017

    • Author(s)
      Kenya Nishioka, Aya Ikeda, Masashi Takanashi, Hiroyo Yoshino, Yuanzhe Li, Manabu Funayama, Yuzuru Imai, Nobutaka Hattori.
    • Organizer
      Genetic Epidemiology of Parkinson’s disease
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Missense mutations and multiplications of alpha-synuclein in familial Parkinson’s disease; genotype-phenotype correlation2017

    • Author(s)
      Kenya Nishioka, Hiroyo Yoshino, Yuanzhe Li, Manabu Funayama, Tara Candido, A. Jon Stoessl, Matthew J Farrer, Nobutaka Hattori.
    • Organizer
      The American Society of Human Genetics
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Analysis of GCH1 mutations in the patients with Parkinson’s disease in Japanese population2016

    • Author(s)
      Kenya Nishioka, Hiroyo Yoshino, Takashi Matsushima, Aya Ikeda, Manabu Funayama, Nobutaka Hattori
    • Organizer
      11th Annual Meeting of the Genetic Epidemiology of Parkinson’s disease (GEOPD) Consortium
    • Place of Presentation
      Campus Belval, Luxembourg
    • Year and Date
      2016-10-06
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Schizophrenia as a prodromal symptom in a patient harboring SNCA duplication2016

    • Author(s)
      Silvio Conedera, Aya Ikeda, Kenya Nishioka, Shogo Takamura, Takashi Matsushima, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Shigeru Morinobu, Nobutaka Hattori.
    • Organizer
      第57会日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター
    • Year and Date
      2016-05-18
    • Related Report
      2016 Research-status Report
  • [Presentation] Analysis of GCH1 mutations in the patients with Parkinson’s disease in Japanese population2016

    • Author(s)
      Hiroyo Yoshino, Kenya Nishioka, Aya Ikeda, Takashi Matsushima, Mitsuaki Oki, Daigo Miyazaki, Yoshiki Sekijima, Ai Hosaka, Takekazu Ohi, Hiroshi Iwanaga, Yuanzhe Li, Manabu Funayama, Nobutaka Hattori.
    • Organizer
      第57会日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター
    • Year and Date
      2016-05-18
    • Related Report
      2016 Research-status Report
  • [Book] II. 病因 1. 関連遺伝子 (11) VPS13C パーキンソン病(第2版) 基礎・臨床研究のアップデート2018

    • Author(s)
      林田有紗、西岡 健弥、服部信孝
    • Total Pages
      5
    • Publisher
      日本臨床社
    • Related Report
      2018 Annual Research Report
  • [Book] Parkinson病のゲノム医療2017

    • Author(s)
      西岡健弥 李元哲 吉野浩代 服部信孝
    • Publisher
      科学評論社
    • Related Report
      2017 Research-status Report
  • [Book] 家族性パーキンソン病 update annual review 20162016

    • Author(s)
      松島隆史、西岡健弥、服部信孝
    • Total Pages
      9
    • Publisher
      中外医学社
    • Related Report
      2016 Research-status Report
  • [Book] 第17番染色体に連鎖するパーキソニズムを伴う前側頭葉型認知症(FTDP-17)2016

    • Author(s)
      西岡健弥,池田彩,服部信孝
    • Total Pages
      6
    • Publisher
      中外医学社
    • Related Report
      2016 Research-status Report
  • [Remarks] 順天堂大学 研究者情報ベース

    • URL

      https://www.juntendo.ac.jp/graduate/kenkyudb/maintenance.html?MID=1762

    • Related Report
      2017 Research-status Report
  • [Remarks] 順天堂大学研究者情報データベース1

    • URL

      http://www.juntendo.ac.jp/graduate/kenkyudb/search/researcher.php?MID=1762

    • Related Report
      2016 Research-status Report
  • [Remarks] 順天堂大学研究者情報データベース2

    • URL

      http://www.juntendo.ac.jp/graduate/kenkyudb/search/achievement.php?MID=1762

    • Related Report
      2016 Research-status Report

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Published: 2016-04-21   Modified: 2022-02-16  

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