How diabetes-linked genes change mitochondria in insulin-producing cells
Type 2 diabetes risk variant effects on mitochondrial (patho)physiology
This project looks at whether common genetic changes linked to type 2 diabetes alter mitochondria in pancreatic beta cells and contribute to insulin problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-11328811 on NIH RePORTER |
What this research studies
The team will use donated human pancreatic islets and beta-cell–specific mouse models to connect diabetes-associated DNA variants to mitochondrial function. They will apply CRISPR-based epigenomic editing to change regulatory DNA elements tied to GWAS variants and observe resulting gene expression changes in beta cells. Mitochondrial bioenergetics, insulin secretion, and cell health will be measured to find which non-coding variants lead to mitochondrial defects. The work aims to map variant-to-mitochondria mechanisms that could underlie early beta-cell failure before full-blown diabetes.
Who could benefit from this research
Good fit: Donors or patients with impaired glucose tolerance, pre-diabetes, or type 2 diabetes who can provide pancreatic tissue or participate in islet donation programs would be most relevant to this work.
Not a fit: Patients seeking immediate changes to their medical care are unlikely to benefit directly from this laboratory-focused, mechanistic project.
Why it matters
Potential benefit: If successful, this work could reveal new molecular targets to prevent or treat beta-cell failure in type 2 diabetes.
How similar studies have performed: Previous research has reported mitochondrial defects in human beta cells and early CRISPR-based work has linked regulatory variants to gene expression, but combining these exact methods to prove variant-to-mitochondria causality is relatively new.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Stitzel, Michael Lee — Jackson Laboratory
- Study coordinator: Stitzel, Michael Lee
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.