Reducing gut symptoms in a hereditary glycosylation disorder
Improving intestinal symptoms in a Congenital Disorder of Glycosylation
This project looks for ways to protect the intestines and reduce chronic diarrhea in people with MPI deficiency, a genetic condition that affects how sugars attach to proteins.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-11184251 on NIH RePORTER |
What this research studies
If you or a family member has MPI deficiency, researchers will use a special mouse model called benadryl that carries the same MPI mutation to mirror the intestinal problems people experience. They will examine how missing sugar attachments on the mucus protein Muc2 affect goblet cell survival, mucus production, and protection from bacteria (Aim 1). They will test how specific N-glycosylation sites control Muc2 folding and dimerization (Aim 2) and trace the molecular links between mannose metabolism and intestinal barrier function (Aim 3). The goal is to identify targets or approaches that could be developed into treatments to strengthen the mucus barrier and reduce diarrhea and protein-losing enteropathy.
Who could benefit from this research
Good fit: Ideal candidates would be people diagnosed with mannose phosphate isomerase (MPI) deficiency or related congenital disorders of glycosylation who experience chronic diarrhea or protein-losing enteropathy.
Not a fit: People whose intestinal symptoms are caused by unrelated conditions (for example typical inflammatory bowel disease without MPI deficiency) or by non-glycosylation genetic disorders may not benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could lead to therapies that improve mucus barrier function and reduce chronic diarrhea and protein loss in people with MPI deficiency.
How similar studies have performed: Some MPI-deficiency patients have responded to oral mannose replacement, but these mechanistic mouse-model studies are novel and aim to reveal how mucin glycosylation preserves gut health.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Sorelle, Jeffrey — Ut Southwestern Medical Center
- Study coordinator: Sorelle, Jeffrey
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.