期刊
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
卷 478, 期 3, 页码 1123-1129出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bbrc.2016.08.079
关键词
ST8SIA2 Polysialic acid; Psychiatric disorder; Bipolar disorder; Autism spectrum disorder; Intronic SNP
资金
- Scientific Research on Innovative Areas [26110708]
- Ministry of Education, Science, Sports and Culture, Japan
- [15K06995]
- Grants-in-Aid for Scientific Research [26110708] Funding Source: KAKEN
Polysialic acid (polySia) is a linear homopolymer of sialic acid and mainly modifies neural cell adhesion molecule. PolySia plays important roles in synapse formation, learning and memory, social behavior and is associated with several diseases. Gene analyses of one of the biosynthetic enzymes for polySia, ST8SIA2, have revealed that several SNPs and genetic variations in the ST8SIA2 gene are associated with several psychiatric disorders; however, the mechanisms underlying these associations remain unknown. Here, we analyzed the effects of two iSNPs of ST8SIA2, rs2168351 and rs3784730, which are associated with bipolar disorder and autism spectrum disorder, respectively, on the expression of mRNA, ST8SIA2 and its final product, polySia in mouse neuroblastoma and human adenocarcinoma cell lines. We found that both iSNPs affected the expression of pre-mRNA and mRNA of ST8SIA2, and altered the cellular levels of ST8SIA2 and polySia. Taken together, these results indicate that impairment of the regulated expression of ST8SIA2 and the resulting downstream effects on gene products by these two iSNPs contribute to the development of these psychiatric disorders. (C) 2016 Elsevier Inc. All rights reserved.
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