The 43rd In Silico Megabank Research Seminar will be held on Friday, December 20.

This Time, we will be welcoming Dr. Yoshiaki Tanaka, Yale University School of Medicine as our lecturer, and he will be speaking on “The Rett’s Syndrome transcriptome analysis using patient-derived IPS cells”.

・Date/Time: December 20(Fri.) 17:00‐18:30
・Venue: Conference Room 1(2nd Floor), Tohoku Medical Megabank Organization
・Title: The Rett’s Syndrome transcriptome analysis using patient-derived IPS cells
・Lecturer: Yoshiaki Tanaka（Yale School of Medicine, Yale University）

・Abstract: The Rett’s Syndrome (RTT) is one of the girl-specific neurodevelopmental disorders showing symptoms such as stammer or the motor deficit within 6-18 months after birth. More than 90% of Rett’s Syndrome patients have variant in MeCP2 of the Methyl-Binding Domain Proteins. MeCP2 is affected by the X chromosome inactivation since it exists on an X chromosome. Also, MeCP2 is very essential gene for survival; thus, the Rett’s Syndrome patients have variant of MeCP2 only in one of the pairs of X chromosomes. Until now, various knowledges concerning RTT were obtained from MeCP2-deficient mice and human postmortem brain, but disorder mechanism in the early developmental phase of Rett’s Syndrome is not yet fully understood. In late years we have produced iPS cells (RTT—iPS cells) from the fiber blast cells of the Rett’s Syndrome patients and isolated the RTT-wt-iPS cell clone which leads to wild-type MeCP2 expression and the RTT-mu-iPS cell clone which leads to variant MeCP2 expression. Also, at the time of the production of iPS cells, clone that suggests reactivation of X chromosomes was observed; we isolated RTT-bi-iPS cells lead to the expression of both wild-type and variant simultaneously. Transcriptome was analyzed using these RTT-iPS cell clones to examine the effect of MeCP2 on multipotent stem cells in this study. As a result, in addition to the past studies reporting on the involvement of MeCP2 on splicing and cell cycle related genes, we found excess expression of mitochondria-related genes for RTT-mu-iPS cells. Moreover, the excess expression of mitochondria genes was observed even after neurodifferentiation and postmortem brain.  Furthermore, the effect of MeCP2 on X chromosomes was clarified using RTT-bi-iPS cells. These results are important reference for understanding the effect that CeCP2 variants produce in the early development as well as establishing new treatment target.

・Organizer : Riu Yamashita, Masao Nagasaki

Access : http://www.megabank.tohoku.ac.jp/english/info/access.html