2016 Fiscal Year Final Research Report
Molecular pathological analysis of ASD-related gene products in astrocytes
| Project/Area Number |
15K14963
|
|---|
| Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pharmacology in pharmacy
|
|---|
| Research Institution | Osaka University |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
HASHIMOTO Hitoshi 大阪大学, 大学院薬学研究科, 教授 (30240849)
HASHIMOTO Ryota 大阪大学, 大学院連合小児発達学研究科, 准教授 (10370983)
KURIU Toshihiko 徳島文理大学, 薬学部, 講師 (10401374)
|
|---|
| Project Period (FY) |
2015-04-01 – 2017-03-31
|
| Keywords | 自閉スペクトラム症 / 分子病態 / iPS細胞 / 神経細胞の発達 / ニューロン / アストロサイト |
|---|
| Outline of Final Research Achievements |
The molecular etiology of autism spectrum disorder (ASD) remains poorly understood. Recent studies have found that de novo mutations are likely to be linked to the risk of ASD. Particularly, genes with highly recurrent de novo possible loss-of-function mutations play key roles in ASD. Our laboratory have recently found that several genes, including POGZ and ASD23 have de novo possible ASD-associated mutations. Despite the apparent importance, these mutations have not been functionally analyzed. In this study, we analyzed the functions of these ASD-associated genes as well as the biological significance of these de novo mutations. We found that POGZ regulates neuronal development and that ASD-associated de novo mutations in the POGZ disrupt its DNA-binding activity. Regarding ASD23 gene, we found that ASD23 is highly expressed in astrocytes and regulates neuronal development. These findings provide important insights into the molecular basis of ASD.
|
| Free Research Field |
分子神経科学
|
