Mutational analysis of the CHCHD2 gene in neurodegenerative diseases
Project/Area Number |
16K09700
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Neurology
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Research Institution | Juntendo University |
Principal Investigator |
Li Yuanzhe 順天堂大学, 医学(系)研究科(研究院), 特任助教 (40549292)
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Research Collaborator |
IKEDA aya
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Project Period (FY) |
2016-04-01 – 2019-03-31
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Project Status |
Completed (Fiscal Year 2018)
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Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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Keywords | CHCHD2 / 家族性パーキンソン病 |
Outline of Final Research Achievements |
We recently identified mutations in the coiled-coil-helix coiled-coil-helix domain containing 2 (CHCHD2) gene in Japanese families with autosomal dominant Parkinson’s disease. We obtained 944 amyotrophic lateral sclerosis (ALS) patients from Japanese Consortium for Amyotrophic Lateral Sclerosis Research. The CHCHD2 gene was assessed in these patients by Sanger sequence. And we screened for variants and evaluated allele frequency. We referred allele frequency of control subjects in Human Genetic Variation Database to compare with that of ALS. We found four variants on the CHCHD2 region in ALS patients. We identified one novel variant in untranslated region and three variants that had been previously reported. Allele frequencies of three variants did not differ between ALS patients and control subjects.
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Academic Significance and Societal Importance of the Research Achievements |
CHCHD2はさまざまな疾患の関連が示唆されているものの、ゲノム解析からアプローチした報告は不十分である。本研究ではこれまで全く研究報告のないミトコンドリア機能低下が病態に重要であると指摘されているALSについて大規模のゲノム解析を行った。 カスタムパネルの作成より構築されたパーキンソン病関連遺伝子を網羅的に解析できるシステムはパーキンソン病の臨床-ゲノムデータベースの基盤となるゲノム情報蓄積に非常に有用である。
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Report
(4 results)
Research Products
(17 results)
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[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.
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Journal Title
Journal of Neurology
Volume: 265(8)
Issue: 8
Pages: 1860-1870
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease.2018
Author(s)
Fujimaki M, Saiki S, Li Y, Kaga N, Taka H, Hatano T, Ishikawa KI, Oji Y, Mori A, Okuzumi A, Koinuma T, Ueno SI, Imamichi Y, Ueno T, Miura Y, Funayama M, Hattori N.
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Journal Title
Neurology.
Volume: 90
Issue: 5
Pages: 1-8
DOI
Related Report
Peer Reviewed / Open Access
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[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.
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Journal Title
J Neural Transm (Vienna)
Volume: -
Issue: 6
Pages: 938-944
DOI
Related Report
Peer Reviewed / Open Access
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[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.
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Journal Title
Neurobiology of Aging
Volume: 57
Pages: 248.e7-248.e12
DOI
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
PARKINSONISM & RELATED DISORDERS
Volume: 34
Pages: 66-68
DOI
Related Report
Peer Reviewed
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[Journal Article] Involvement of the caudate nucleus head and its networks in sporadic amyotrophic lateral sclerosis-frontotemporal dementia continuum.2016
Author(s)
Masuda, M., Senda, J., Watanabe, H., Epifanio, B., Tanaka, Y., Imai, K., Riku, Y., Li, Y., Nakamura, R., Ito, M., Ishigaki, S., Atsuta, N., Koike, H., Katsuno, M., Hattori, N., Naganawa, S., and Sobue, G.
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Journal Title
Amyotroph Lateral Scler Frontotemporal Degener
Volume: 17
Issue: 7-8
Pages: 571-579
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.2016
Author(s)
Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, Furuta A, Takanashi M, Li Y, Hattori N, Mitsuyama Y, Arai H.
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Journal Title
Journal of Neuroogicall Science
Volume: 15;367
Pages: 349-55
DOI
Related Report
Peer Reviewed / Open Access
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