부산대학교 도서관

Objectives Huntington disease (HD) is a common hereditary neurodegenerative disorder. Pathogenesis is strongly associated with mutation of the protein huntingtin (HTT). Brain-derived neurotrophic factor (BDNF) is an essential growth factor in neurons and is downregulated in HD. This study focuses on the RE1-silencing transcription factor (REST)/BDNF pathway and provides statistical analysis on expression levels of many genes involved in this pathway in HD and normal subjects. Methods Twelve recent microarray studies were systematically selected from the Gene Expression Omnibus (GEO). Over-representation analysis was performed on all assayed genes using the Database for Annotation, Visualization and Integrated Discovery (DAVID). Detailed analysis of genes involved in BDNF expression, delivery, and response was performed, and Fischer's combined probability test was applied to combine findings across the 12 selected studies. Results Our findings suggest downregulation of BDNF expression in HD-affected patients compared to controls. Analysis of the gene expressions of REST and AKT2 suggests that BDNF expression may be negatively correlated with REST expression and positively correlated with AKT2 expression. Conclusions Our analysis demonstrates a systematic approach for the use of publicly available microarray data in the analysis of heritable diseases. Our findings suggest that changes in BDNF expression in HD may play a role in HD pathogenesis. [ABSTRACT FROM AUTHOR]