title: Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient.
abstract: Maturity-onset diabetes of the young (MODY) is a heterozygous monogenic diabetes; more than 13 disease genes have been identified. However, the pathogenesis of MODY is not fully understood, because the pancreatic β-cells of the patients are inaccessable. Therefore, we attempted to establish MODY patient-derived induced pluripotent stem cells (MODY-iPS) cells to investigate the pathogenic mechanism of MODY by inducing pancreatic β-cells. We established MODY5-iPS cells from a Japanese patient with MODY5 (R177X), and confirmed that MODY5-iPS cells possessed the characteristics of pluripotent stem cells. In the course of differentiation from MODY5-iPS cells into pancreatic β-cells, we examined the disease gene, HNF1B messenger ribonucleic acid. We found that the amount of R177X mutant transcripts was much less than that of wild ones, but they increased after adding cycloheximide to the medium. These results suggest that these R177X mutant messenger ribonucleic acids are disrupted by nonsense-mediated messenger ribonucleic acid decay in MODY-iPS cells during the developmental stages of pancreatic β-cells.
authors.affiliation: Department of Regenerative Medicine, Research Institute, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Shigeharu G
authors.initials: SG
authors.lastname: Yabe
authors.affiliation: Diabetes Center, Tokyo Women's Medical University Tokyo, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Iwasaki
authors.affiliation: Department of Metabolic Disorders, Diabetes Research Center, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Yasuda
authors.affiliation: Department of Regenerative Medicine, Research Institute, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Tatsuo S
authors.initials: TS
authors.lastname: Hamazaki
authors.affiliation: Department of Regenerative Medicine, Research Institute, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Konno
authors.affiliation: Department of Regenerative Medicine, Research Institute, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Satsuki
authors.initials: S
authors.lastname: Fukuda
authors.affiliation: Department of Regenerative Medicine, Research Institute, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Fujie
authors.initials: F
authors.lastname: Takeda
authors.affiliation: National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Kasuga
authors.affiliation: Department of Regenerative Medicine, Research Institute, National Center for Global Health and Medicine Tokyo, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Okochi
keywords: Diabetes; Maturity-onset diabetes of the young; Pluripotent stem cells