Basic and clinical research for innovated biological marker and new treatment strategy inpatients with Rett syndrome

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591531
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kurume University
• Principal Investigator: TOYOJIRO MATSUISHI 久留米大学, 医学部, 教授 (60157237)
• Co-Investigator(Kenkyū-buntansha): YAMASHITA Yushiro 久留米大学, 医学部, 教授 (90211630) ; TAKAHASHI Tomoyuki 久留米大学, 医学部, 准教授 (20332687) ; NISHI Yoshihiro 久留米大学, 医学部, 講師 (20352122) ; MIFUNE Hiroharu 久留米大学, 医学部, 准教授 (70174117) ; MATSUMOTO Naomichi 横浜市立大学, 医学系研究科, 教授 (80325638)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: レット症候群 / SHANK3遺伝子 / ES細胞 / モデル動物 / 不整脈 / 心臓分化 / グレリン

Outline of Final Research Achievements

We established three basic and clinical research in Rett syndrome (RTT). We firstly demonstrated the De Novo SH3 and multiple ankylin repeat domain 3 (SHANK3) mutation causes RTT. We also revealed that loss of MeCP2 lead to dysregulation of endogeneous cardiac genes and myocardiac structure alterations. Furthermre, we detected methylation of the CpG islands in the Tbx5 locus, suggest MeCP2 is an important regulator.　Taken together, these results suggest that MeCP2 is an important regulator of the gene-expression program responsible for maintaining normal cardiac development and cardiomyocyte structure. Ｗe also confirmed intravenous ghrelin administration ameliorate the clinical symptom in patients with RTT.

Free Research Field

小児神経学