期刊
NEUROSCIENCE LETTERS
卷 343, 期 1, 页码 5-8出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/S0304-3940(03)00302-1
关键词
dystonia; torsinA; dystonia gene; microarray analysis; quantitative reverse transcription-polymerase chain reaction; heat shock proteins
An in-frame deletion (DeltaE302/303) in the TorsinA gene has been demonstrated to be responsible for primary torsion dystonia, showing dominant inheritance with reduced penetrance. The DeltaE302/303 torsinA mutation forms intracellular ER derived inclusions in a variety of cultured cells, which may suggest that the mutations might evoke ER stress. We used microarray analysis of human derived cell lines expressing the DeltaE302/303 torsinA mutation in order to reveal alterations in gene expression in the hope of identifying genetic modifying loci or novel markers for disease pathogenesis. We identified transcriptional changes in multiple members of the heat shock protein family of genes, confirmed by reverse transcription-polymerase chain reaction, which could be indicative of ER stress. However, both wild type and mutant torsinA were affected to a similar extent, suggesting that this is not related to either disease state or the formation of ER-derived inclusions. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.
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