Journal
PARKINSONISM & RELATED DISORDERS
Volume 30, Issue -, Pages 67-72Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2016.06.007
Keywords
iPSC; Tyrosine hydroxylase-positive neuron; Aggregate; DCTN1; Perry syndrome
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Funding
- JSPS KAKENHI Grant [26860678]
- Program for Intractable Diseases Research utilizing disease-specific iPS cells from the Japan Agency for Medical Research and development (AMED)
- Research Project for Practical Applications of Regenerative Medicine from AMED
- grant for Core Center for iPS cell Research of Research Center Network for Realization of Regenerative Medicine from AMED
- Mochida Memorial Foundation for Medical and Pharmaceutical Research
- Daiichi Sankyo Foundation of Life Science
- Grants-in-Aid for Scientific Research [26860678] Funding Source: KAKEN
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Background: Perry syndrome is a rare autosomal dominant disorder clinically characterized by parkinsonism with depression/apathy, weight loss, and central hypoventilation. Eight mutations in DCTN1 gene have been reported. A novel disease model is required because the detailed pathogenesis remains unclear. Methods: To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations. We differentiated iPSCs into tyrosine hydroxylase (TH)-positive neurons. Immunocytochemistry analyses of control and mutant were performed. Results: The patient displayed levodopa responsive parkinsonism. Dopamine transporter single photon emission tomography showed markedly decreased uptake in the striatum, and metaiodobenzylguanidine cardiac scintigraphy also showed decreased uptake. Perry syndrome TH-positive neurons showed dynactin aggregates in cytoplasm. Conclusions: TH-positive neurons from Perry syndrome iPSCs recapitulated an aspect of the disease phenotype of Perry syndrome. (C) 2016 Elsevier Ltd. All rights reserved.
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