2015 Fiscal Year Final Research Report
The study of impaired autonomic nerve system in Rett syndrome model mice and ES/iPS cells derived from them
| Project/Area Number |
26860832
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Kurume University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Keywords | Rett症候群 |
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| Outline of Final Research Achievements |
Rett Syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Most cases of RTT are caused by de novo mutations in methyl-CpG binding protein 2 (MeCP2) gene on X chromosome. Several studies found the prolonged QT interval and lethal cardiac arrhythmias in RTT patients and Mecp2-deficient animal disease models. In this study, we investigated the contribution of MeCP2 to cardiac development, structure, and function using an in vitro ES cell model system and an in vivo mouse model for RTT. Our results demonstrate that MeCP2 deficiency impairs the development and further cardiac differentiation of cardiac progenitor cells. We also show that MeCP2 is involved in maintaining normal cardiac gene expression and cardiomyocyte structure in the adult mouse heart. Moreover, we found that MeCP2 may regulate the gene expression of Tbx5, a transcriptional factor essential to cardiac development and function.
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| Free Research Field |
小児科学
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