2017 Fiscal Year Final Research Report
A pathogenesis study of Perry syndrome
| Project/Area Number |
26860678
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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 | Fukuoka University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2018-03-31
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| Keywords | Perry症候群 / DCTN1 / TDP-43 / モデルマウス / iPS細胞 / 診断基準 |
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| Outline of Final Research Achievements |
【Clinical study】We reported clinical features of patients with Perry syndrome. We established international diagnostic criteria for Perry syndrome.
【Basic study】We showed that Perry syndrome is a distinctive type of TDP-43 proteinopathy. We generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient and differentiated iPSCs into tyrosine hydroxylase (TH)-positive neurons. TH-positive neurons from a patient with Perry syndrome had dynactin aggregations in cytoplasm. Patient TH-positive neurons recapitulated an aspect of the disease phenotype of Perry syndrome. We generated DCTN1 G71A transgenic mice. These mice showed decreased exploratory activity and impaired motor coordination. These behavioral defects paralleled apathy-like symptoms and parkinsonism encountered in Perry syndrome.
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| Free Research Field |
臨床遺伝学
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