Objective: To elucidate the role of A39S mutation of DJ-1 in the onset of Parkinson's disease (PD) and identify genes for which expressions are abnormally regulated by A39S DJ-1 mutation.
Methods: We established HEK293 cell lines which stably expressed empty vector, wild-type DJ-1 and A39S mutated DJ-1 respectively. DNA microarrays were used to identify genes for which expressions change in wild-type DJ-1 cells and A39S DJ-1 mutant cells.
Results: Compared with the cell line expression empty vector, we identified 42 differentially regulated genes (including 14 up-regulated genes and 28 down-regulated genes) in the wildtype DJ-1 cells and 8 differentially regulated genes (including 6 up-regulated genes and 2 downregulated genes) in the A39S DJ-1 mutant cells. Compared with the wild-type DJ-1 cells, only the expression of UGT2B7 gene was down-regulated in A39S DJ-1 mutant cells. These differentially regulated genes were mainly related to signal transduction, regulation of transcription, apoptosis and metabolism.
Conclusion: A39S mutated DJ-1 may disturb the transcriptional activities of DJ-l and involve in the pathogenesis of PD.