2024/02/28
Keio University School of Medicine
A pediatric cardiology group from the Keio University School of Medicine, including Project Professor Hiroyuki Yamagishi (President of the Japanese Society of Pediatric Cardiology) from the Center for Preventive Medicine, Associate Professor Keiko Uchida from the Health Center, and Senior Assistant Professor Kazuki Furutachi and Assistant Professor Tadashi Inoue from the Department of Pediatrics, has, in a joint study with Tokyo Women's Medical University, Kurume University, JCHO Kyushu Hospital, and Nagasaki University (IRUD), identified a genetic variant (c.1617del) of the membrane protein TMEM260. This variant is found at a high frequency in Japanese patients and has been determined to be the most significant genetic cause of truncus arteriosus, a severe congenital heart disease. The same genetic variant was also discovered simultaneously by the pediatric group at Tohoku University and will be named the "TMEM260 Keio-Tohoku variant." This discovery is expected to serve as a stepping stone for the elucidation of congenital heart disease at the molecular and cellular levels in Japan, as well as for the advancement of genetic counseling and preventive and regenerative medicine.
These research findings were published in the online edition of Journal of Human Genetics , an international scientific journal originating from Japan, on February 26, 2024 (JST).
For the full press release, please see below.