Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders

Kuo Hsuan Chang, Guan Chiun Lee, Chin Chang Huang, Hung Chou Kuo, Chiung Mei Chen, Ya Chin Hsiao, Hsuan Chu Hsu, Ke Jen Hsu, Chih Hsin Lin, Chia Wen Chang, Guey Jen Lee-Chen, Yih Ru Wu

研究成果: 雜誌貢獻文章

2 引文 斯高帕斯(Scopus)

摘要

Background: Mutations in the GRN (granulin precursor) are a frequent cause of frontotemporal dementia (FTD) and other atypical parkinsonian disorders. However, the frequency of GRN mutations in Asian patients with atypical parkinsonian disorders is still uncertain. Methods: We screened GRN mutations by sequencing cDNA from 98 patients with FTD or atypical parkinsonian disorders. The functional properties of the identified mutation were evaluated by overexpression in human embryonic kidney (HEK)-293 cells. Results: We identified a new missense (GRN p.T487I) mutation in a female patient with undefined atypical parkinsonism. The overexpression experiment further demonstrated that p.T487I mutation reduced the progranulin protein level and stability in HEK-293 cells. Conclusion: GRN p.T487I mutation, which decreases the stability of progranulin protein, could be a new causative mutation in patients with atypical parkinsonian disorders.

原文英語
頁(從 - 到)61-66
頁數6
期刊Parkinsonism and Related Disorders
51
DOIs
出版狀態已發佈 - 2018 六月

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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    Chang, K. H., Lee, G. C., Huang, C. C., Kuo, H. C., Chen, C. M., Hsiao, Y. C., Hsu, H. C., Hsu, K. J., Lin, C. H., Chang, C. W., Lee-Chen, G. J., & Wu, Y. R. (2018). Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders. Parkinsonism and Related Disorders, 51, 61-66. https://doi.org/10.1016/j.parkreldis.2018.02.045