Exploring how mitochondrial DNA mutations affect health
Official title: Understanding the regulation of mtDNA heteroplasmy and integrity
Funded at University of Washington · NIH-10837271 · Data updated 2026-11-12
This study is looking at how changes in mitochondrial DNA can affect your health and lead to inherited diseases, with the goal of helping patients understand these changes better and finding new ways to diagnose and treat related conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 1, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $388,750 |
| NIH project number | 1R35GM153370-01 |
| Project ID | NIH-10837271 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with maternally inherited mitochondrial diseases or those experiencing health issues linked to mtDNA mutations.
✕Less likely to help
Patients with conditions unrelated to mitochondrial DNA mutations may not receive any benefit from this research.
What this research studies
This research investigates the role of mitochondrial DNA (mtDNA) mutations in human health, particularly focusing on how these mutations can lead to inherited diseases and other common health issues. By utilizing advanced sequencing technologies, the study aims to uncover the cellular mechanisms that regulate mtDNA heteroplasmy, which is the presence of multiple mtDNA variants within a cell. The research will also explore how these mutations vary across different tissues and organisms, providing insights into their impact on mitochondrial function and overall health. Patients may benefit from a better understanding of how mtDNA mutations contribute to their conditions, potentially leading to improved diagnostic and therapeutic strategies.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the prevention and treatment of diseases caused by mitochondrial DNA mutations.
How similar studies have gone: Previous research has shown promising results in understanding mtDNA mutations, but this study employs novel sequencing techniques that may provide new insights.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Kennedy, Scott Robert — University of Washington
- Study coordinator: Kennedy, Scott Robert
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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.