NIH Research Festival
Fabry disease is a glycosphingolipid storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (AGA) which causes the storage of Gb3 (globotriaosylceramide) leading to a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of the hallmarks of this disorder is neuropathic pain in hands and feed and nervous dysfunction. The cause of this neuropathic pain is not well understood in part due to lack of an in vitro model system. We developed a cell culture model of Fabry peripherial neuropathy using Crispr-CAS to knockout alpha-galactosidase in an immortalized dorsal root ganglion cell line. We have been able to show that these cells have a complete reduction in enzyme expression but maintain the ability to differentiate and express TRPV-1 pain receptors. These cells will be useful to study the mechanism of pain in Fabry disease and may be used for high-throughput screening of treatments.
Scientific Focus Area: Cell Biology
This page was last updated on Friday, March 26, 2021