ENT3 (SLC29A3) and blood stem cell disorders
SLC29A3 lysosomal transporter in hematopoietic homeostasis and disease
This project tests whether restoring the ENT3 transporter or using bile-acid and ER-stress–reducing drugs can help people with SLC29A3 genetic disorders that cause anemia and enlarged liver or spleen.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project ID | NIH-11292842 on NIH RePORTER |
What this research studies
Researchers are studying rare genetic conditions caused by mutations in SLC29A3, which makes the lysosomal transporter ENT3 and leads to anemia, low blood-forming stem cells, and hepatosplenomegaly. They use mouse models, cell studies, and molecular analyses to follow how ENT3 moves bile-acid chemical chaperones from lysosomes to the endoplasmic reticulum and how that affects ER stress in hematopoietic stem cells. The team will test whether giving natural or synthetic chemical chaperones and drugs that reduce ER stress (for example salubrinal) can restore stem-cell function in ENT3-deficient models and will measure molecular markers linked to disease. Where possible, findings will be compared to human-derived samples to connect the laboratory results to patient biology.
Who could benefit from this research
Good fit: People with confirmed SLC29A3 (ENT3) genetic disorders—such as H syndrome, PHID, or related SLC29A3 syndromes—especially those with anemia, erythroid hypoplasia, or hepatosplenomegaly would be the most relevant candidates.
Not a fit: People without SLC29A3 mutations or whose symptoms stem from unrelated causes are unlikely to benefit directly from these specific approaches.
Why it matters
Potential benefit: If successful, this work could lead to new drug approaches that improve bone marrow function and reduce anemia and organ enlargement in people with SLC29A3-related disorders.
How similar studies have performed: Preclinical work in ENT3-deficient mice has shown promise using ER-stress reducers and bile-acid chaperones, but applying these treatments to people remains novel.
Where this research is happening
Columbus, UNITED STATES
- Ohio State University — Columbus, United States (Active)
Researchers
- Principal investigator: Govindarajan, Rajgopal — Ohio State University
- Study coordinator: Govindarajan, Rajgopal
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.