Abnormalities of Neural Stem Cells in Lesch-Nyhan Disease.

Published in Journal of Neurogenetics, 2022

Recommended citation: Dinasarapu AR , Sutcliffe DJ, Seifar F, Visser JE, Jinnah HA (2022). Abnormalities of Neural Stem Cells in Lesch-Nyhan Disease. Journal of Neurogenetics, (accepted).

Lesch-Nyhan disease (LND) is a neurodevelopmental disorder caused by variants in the HPRT1 gene, which encodes the enzyme hypoxanthine-guanine phosphoribosyl transferase (HGprt). HGprt deficiency provokes numerous metabolic changes which vary among different cell types, making it unclear which changes are most relevant for abnormal neural development. To begin to elucidate the consequences of HGprt deficiency for developing human neurons, neural stem cells (NSCs) were prepared from 6 induced pluripotent stem cell (iPSC) lines from individuals with LND and compared to 6 normal healthy controls.