Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice
Ewa A. Ziółkowska, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Jaiprakash Sharma, Marco Sardiello, Rebecca P. Bradley, Ineka T. Whiteman, Mark S. Sands, Robert O. Heuckeroth, Jonathan D. Cooper · 2025
Read Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice by Ewa A. Ziółkowska, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Jaiprakash Sharma, Marco Sardiello, Rebecca P. Bradley, Ineka T. Whiteman, Mark S. Sands, Robert O. Heuckeroth, Jonathan D. Cooper (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12751165.txt.
Description
Ewa Ziółkowska and co-authors show that the gut's own nervous system degenerates in CLN3 disease, and that gene therapy can prevent it in mice, in a 2025 study. CLN3 disease is a neurodegenerative disorder of children, and severe gut symptoms hurt quality of life and can contribute to death. The team suspected the bowel's nerve network, which runs digestion, was itself under attack.
In bowel tissue from human patients, enteric neurons and their fibers were profoundly lost, and the supporting glia were damaged. Mice missing the same gene started life with a normal gut network, then lost neurons and glia progressively as the bowel swelled, mirroring the human picture. Giving newborn mutant mice a gene therapy virus by vein largely prevented the gut damage and the swelling at the disease's end stage.
Catalog record
| CREATOR | Ewa A. Ziółkowska, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Jaiprakash Sharma, Marco Sardiello, Rebecca P. Bradley, Ineka T. Whiteman, Mark S. Sands, Robert O. Heuckeroth, Jonathan D. Cooper |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 49 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |