われわれは, 胎児の間に目, 耳, 鼻などの感覚器や顔の形成などに重要な役割をもつ神経堤細胞の異常のために, 生まれつき目, 耳や顔面形成に異常をもつCHARGE症候群患者について, iPS細胞を用いた病気モデルを作成しました。このモデルは細胞の動きを実際に観察することができ, より直接的に障害を観察できる点が優れています。神経堤細胞の障害により生じる多くの他の病気の病態解明に応用できると期待しています。また創薬研究において, このモデルは初期の胎児の神経堤細胞に影響を与える薬剤の安全性スクリーニングにも応用可能と考えています。
CHARGE syndrome is a disease in which organs including the heart, eyes and ears may not develop properly. The cells that form the tissues affected by CHARGE syndrome develop in embryos called neural crest cells.
We created iPSCs from CHARGE syndrome patients, developed these cells into neural crest cells, and compared them with neural crest cells that were developed from healthy individuals. The neural crest cells developed from CHARGE syndrome showed multiple abnormalities. For example, they were not able to move around correctly. This is an important observation because neural crest cells must move through tissues to form the various organs affected by CHARGE syndrome.
We also observed changes in the activity of many genes other than CHD7 in the neural crest cells developed from CHARGE patients. Further research is now needed to find out which genes are the most important for restoring the normal activity of neural crest cells.

研究種目 : 若手研究(B)
研究期間 : 2014～2017
課題番号 : 26860823
研究分野 : 幹細胞学