Understanding how a MAFA gene variant affects glucose problems differently in men and women
Official title: Examining how the novel S64F MAFA variant produces glucose intolerance or hypoglycemia in a sex-dependent manner
Funded at Vanderbilt University Medical Center · NIH-11330210 · Data updated 2026-11-12
A study in adult diabetes patients and a mouse model looks at how a rare MAFA gene variant (S64F) may cause diabetes in men and hypoglycemia in women, aiming to explain sex differences in disease risk.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project start | July 1, 2022 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $158,436 |
| NIH project number | 5K08DK132507-05 |
| Project ID | NIH-11330210 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with type 2 diabetes risk or MAFA-related glucose disorders, and individuals (or their tissues) carrying the S64F MAFA variant.
✕Less likely to help
People without MAFA-related risk or related glucose disorders may not benefit from this study.
What this research studies
This project focuses on how a single genetic change in MAFA influences insulin-producing cells in the pancreas and how that leads to high or low blood sugar, with attention to differences between men and women as they age. Researchers will use a mouse model carrying the S64F MAFA variant and compare findings to human data to understand sex-specific effects on beta-cell function and glucose control. The study plans to explore molecular pathways in beta-cells, test new therapeutic angles to preserve or boost beta-cell activity, and clarify why this MAFA mutation manifests as diabetes in men and hypoglycemia in women. Outcomes could guide personalized approaches for people with or at risk for MAFA-related glucose disorders.
Why it matters
Potential benefit: Findings could lead to sex-specific strategies to prevent or treat MAFA-related diabetes or hypoglycemia.
How similar studies have gone: Preliminary models and human data suggest MAFA is crucial for beta-cell function, supporting potential translational gains if sex differences are confirmed.
Where this research is happening
-
Vanderbilt University Medical Center
Nashville, United States Active
Researchers
- Principal investigator: Cha, Jeeyeon — Vanderbilt University Medical Center
- Study coordinator: Cha, Jeeyeon
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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.