作者: Sang Wan Sim , Tae Sub Park , Sung‐Jo Kim , Byung‐Chul Park , David A. Weinstein
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摘要: Glycogen storage disease type Ib (GSD-Ib) is caused by mutations of the glucose-6-phosphate transporter (G6PT) and characterized disrupted glucose homeostasis, neutropenia, neutrophil dysfunction. To investigate role G6PT in human adipose-derived mesenchymal stem cells (hMSCs), gene was mutated CRISPR/Cas9 technology single cell-derived G6PT-/- hMSCs were established. have significantly increased cell proliferation but impaired adipogenesis osteogenesis. These phenotypes are associated with two mechanisms: i) metabolic reprogramming causing a shift toward glycolysis rather than oxidative phosphorylation ii) cyclooxygenase-2-derived prostaglandin E2 secretion hMSCs. This study demonstrates that essential for differentiation MSCs, providing important insights into GSD-Ib phenotypes.