Research Project
Grant-in-Aid for Challenging Exploratory Research
The FATP gene family encodes fatty acid transport proteins. We investigated functional abnormalities of FATP genes in terms of the pathogenesis of autism spectrum disorders (ASD). We confirmed the expression of FATP3 and FATP4 in human neural stem cells derived from iPS cells, which suggested their involvement in the developmental stage of the central nervous system. Additionally, we resequenced the FATP3 and FATP4 genes using 267 ASD patient and 1140 control samples and detected 47 and 30 variants for the FATP3 and FATP4, respectively, revealing that they are highly polymorphic with multiple rare variants. The FATP4 Ser209 allele was more frequently represented in ASD samples. We showed that a FATP4 Ser209 mutant resulted in significantly higher fluorescently-labeled fatty acid uptake into bEnd3 cells, a mouse brain capillary-derived endothelial cell line, compared with FATP4 Gly209, suggesting that the functional change may contribute to ASD pathophysiology.
All 2015
All Journal Article (1 results) (of which Peer Reviewed: 1 results, Open Access: 1 results, Acknowledgement Compliant: 1 results)
Sci Rep.
Volume: 5 Issue: 1 Pages: 16239-16239
10.1038/srep16239
