Li Rui, Tsuboi Hazuki, Ito Hidenori, Takagi Daigo, Chang Yun-Hsuan, Shimizu Tomoya, Arai Yutaka, Matsuo-Takasaki Mami, Noguchi Michiya, Nakamura Yukio, Ohnuma Kiyoshi, Takahashi Satoru, Hayashi Yohei
iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan; School of Integrative and Global Majors, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8577, Japan.
Department of Materials Science and Bioengineering, Nagaoka University of Technology, 1603-1 Kami-Tomioka, Nagaoka, Niigata 940-2188, Japan.
Stem Cell Res. 2024 Dec;81:103584. doi: 10.1016/j.scr.2024.103584. Epub 2024 Oct 18.
Glucose transporter 1 deficiency syndrome (GLUT1DS), caused by impaired glucose transport at the blood-brain barriers, leads to various central nervous system dysfunctions. A comprehensive understanding of the underlying disease pathogenesis is still lacking. In this study, we have generated GLUT1DS-specific human induced pluripotent stem cells (hiPSCs) derived from two patients. These established GLUT1DS-specific hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift or missense mutations in the responsible SLC2A1 gene. These novel cell resources provide new avenues for understanding disease mechanisms and developing new therapies for GLUT1DS.
葡萄糖转运蛋白1缺乏综合征（GLUT1DS）由血脑屏障处葡萄糖转运受损引起，会导致各种中枢神经系统功能障碍。目前仍缺乏对该疾病潜在发病机制的全面了解。在本研究中，我们从两名患者身上获得了GLUT1DS特异性的人类诱导多能干细胞（hiPSC）。这些建立的GLUT1DS特异性hiPSC系表现出自我更新和多能性，并且在负责的SLC2A1基因中携带杂合移码或错义突变。这些新的细胞资源为理解疾病机制和开发GLUT1DS的新疗法提供了新途径。
