2016 Fiscal Year Final Research Report
The detection of modifier gens in alpha-synuclein multiplications
| Project/Area Number |
25860726
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Neurology
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| Research Institution | Juntendo University |
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Principal Investigator |
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| Research Collaborator |
HATTORI Nobutaka 順天堂大学, 医学部, 教授 (80218510)
MANABU Funayama 順天堂大学, 医学部, 准教授 (70468578)
LI Yuanzhe 順天堂大学, 医学部 (40549292)
TODA Tatsushi 神戸大学, 医学部, 教授 (30262025)
Farrer Matthew J University of British Columbia, Department of Medical Genetics
Ross Owen A. Mayo Clinic, Associate Professor of Neuroscience
Kruger Rejko Kruger University of Luxembourg, Clinical&Experimental Neuroscience group
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| Project Period (FY) |
2013-04-01 – 2017-03-31
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| Keywords | パーキンソン病 / alpha-synuclein / SNCA / 遺伝子重複 / びまん性レビー小体病 / 認知症 |
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| Outline of Final Research Achievements |
We enrolled 20 patients harboring SNCA duplication (Male:Female=8:12) derived from six Japanese families. We divided them to two groups of symptomatic carriers and asymptomatic carriers. Genes were analyzed by genechip of Affymetrix and searched all SNPs in exons. We estimated the region having over 3.0 of LOD score, including 18 novel genes. Eventually, we have difficulty to detect the precise candidate genes in this study. We have started to analyze data again adding the 50 samples harboring SNCA duplication, derived from around world, collaborating with University of British Columbia.
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| Free Research Field |
神経学
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