Unraveling Fabry Disease: Lyso-Gb3’s Role in Gut Physiology

 In this episode, coauthors Cecilia Delprete, Friederike Uhlig, Marco Caprini, and Niall P. Hyland dive into their latest research titled "Characterization of Fabry disease-associated lyso-Gb3 on mouse colonic ion transport and motility."

Fabry disease (FD) is a rare genetic disorder with wide-ranging effects across the body, including the gastrointestinal (GI) system—often one of the first to show symptoms. The team explores how the lipid molecule lyso-Gb3, known to accumulate in FD, affects colonic function using ex vivo techniques like Ussing chambers and organ baths.

The conversation covers key findings: lyso-Gb3 significantly alters ion transport in the colon but doesn't affect motility or nerve responses, suggesting a complex mechanism behind GI symptoms in FD patients. Could this bring us closer to understanding—and eventually treating—the GI discomfort that burdens so many with Fabry disease? Tune in today!

 

Characterization of Fabry disease-associated lyso-Gb₃ on mouse colonic ion transport and motility

Cecilia Delprete, Friederike Uhlig, Marco Caprini, and Niall P. Hyland

American Journal of Physiology-Gastrointestinal and Liver Physiology 2024 327:6, G810-G817