Marta Chaverra

Sep 11, 2024 | jneurosci.org | Marta Chaverra |Alexandra Cheney |Lynn E. George |Anastasia Schultz

ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis Marta Chaverra, Alexandra M. Cheney, Alpha Scheel, Alessa Miller, Lynn George, Anastasia Schultz, Katelyn Henningsen, Douglas Kominsky, Heather Walk, William R. Kennedy, Horacio Kaufmann, Seth Walk, Valérie Copié, Frances Lefcort Journal of Neuroscience 11 September 2024, 44 (37) e2253232024; DOI: 10.1523/JNEUROSCI.2253-23.2024

Aug 8, 2024 | jneurosci.org | Alexandra Cheney |Lynn E. George |Anastasia Schultz |Marta Chaverra

AbstractFamilial dysautonomia (FD) is a rare sensory and autonomic neuropathy that results from a mutation in the ELP1 gene. Virtually all patients report gastrointestinal (GI) dysfunction and we have recently shown that FD patients have a dysbiotic gut microbiome and altered metabolome. These findings were recapitulated in an FD mouse model and moreover, the FD mice had reduced intestinal motility, as did patients.