SCA17 repeat expansion: Mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications

Chiung Mei Chen, Li Ching Lee, Bing Wen Soong, Hon Chung Fung, Wen Chuin Hsu, Pei Ying Lin, Hui Ju Huang, Fen Lin Chen, Cheng Yueh Lin, Guey Jen Lee-Chen*, Yih Ru Wu

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

20 引文 斯高帕斯(Scopus)

摘要

Background: Spinocerebellar ataxia type 17 (SCA17) involves the expression of a CAG/CAA expansion mutation in the gene encoding TATA-box binding protein (TBP), a general transcription initiation factor. The spectrum of SCA17 clinical presentation is broad. Methods: We screened for triplet expansion in the TBP gene in Taiwanese Parkinson's disease (PD), Alzheimer's disease (AD) and atypical parkinsonism and investigated the functional implication of expanded alleles using lymphoblastoid cells as a model. Results: A total of 6 mildly expanded alleles (44-46) were identified in patients group. The frequency of the individuals carrying expanded alleles in PD (3/602 [0.5%]), AD (2/245 [0.8%]) and atypical parkinsonism (1/44 [2.3%]) is not significant as compared to that in the control subjects (0/644 [0.0%]). In lymphoblastoid cells, HSPA5, HSPA8 and HSPB1 expression levels in cells with expanded TBP were significantly lower than that of the control cells. Although not significantly, the levels of PARK7 protein isoforms 6.1 and 6.4 are notably increased in SCA17 lymphoblastoid cells. Treatment of TBH (tert-butyl hydroperoxide) significantly increases cell death in the cells with mildly expanded TBP. Conclusions: Our findings expand the spectrum of SCA17 phenotype and may contribute to our understanding of the disease.

原文英語
頁(從 - 到)375-380
頁數6
期刊Clinica Chimica Acta
411
發行號5-6
DOIs
出版狀態已發佈 - 2010 3月 2

ASJC Scopus subject areas

  • 生物化學
  • 臨床生物化學
  • 生物化學(醫學)

指紋

深入研究「SCA17 repeat expansion: Mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications」主題。共同形成了獨特的指紋。

引用此