Article
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Scientific reports - 30 May 2022
Ono Koya, Fujiwara Tohru, Saito Kei, Nishizawa Hironari, Takahashi Noriyuki, Suzuki Chie, Ochi Tetsuro, Kato Hiroki, Ishii Yusho, Onodera Koichi, Ichikawa Satoshi, Fukuhara Noriko, Onishi Yasushi, Yokoyama Hisayuki, Yamada Rie, Nakamura Yukio, Igarashi Kazuhiko, Harigae Hideo
Abstract excerpt
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. In XLSA, defective heme biosynthesis leads to ring sideroblast formation because of excess mitochondrial iron accumulation. In this study, we introduced ALAS2 missense mutations on human umbilical cord blood-derived...
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