Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

• DOI: 10.1126/sciadv.abd7197
• Publication Date: 2020-12-22T23:13:32Z
• Authors: Yasuyoshi Oka; Motoharu Hamada; Yuka Nakazawa; Hideki Muramatsu; Yusuke Okuno; Koichiro Higasa; Mayuko Shimada; Honoka Takeshima; Katsuhiro Hanada; Taichi Hirano; Toshiro Kawakita; Hirotoshi Sakaguchi; Takuya Ichimura; Shuichi Ozono; Kotaro Yuge; Yoriko Watanabe; Yuko Kotani; Mutsumi Yamane; Yumiko Kasugai; Miyako Tanaka; Takayoshi Suganami; Shinichiro Nakada; Norisato Mitsutake; Yuichiro Hara; Kohji Kato; Seiji Mizuno; Noriko Miyake; Yosuke Kawai; Katsushi Tokunaga; Masao Nagasaki; Seiji Kito; Keiichi Isoyama; Masafumi Onodera; Hideo Kaneko; Naomichi Matsumoto; Fumihiko Matsuda; Keitaro Matsuo; Yoshiyuki Takahashi; Tomoji Mashimo; Seiji Kojima; Tomoo Ogi
• Keywords: ALDH2; Genetic disorder

Malfunctions in the formaldehyde clearance processes induce DNA damage and overload repair system cause AMeD syndrome.