Investigating how mutations in mitochondrial DNA affect health and aging
Official title: Functional Characterization of Mitochondrial Genome Nonsense Mutations
Funded at Johns Hopkins University · NIH-11058499 · Data updated 2026-11-12
This study is looking at how certain changes in our mitochondrial DNA might affect our health and how we age, especially in relation to heart cells, and it's for anyone interested in understanding the links between these DNA changes and diseases that come with getting older.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | April 1, 2024 |
| Project end | January 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $204,688 |
| NIH project number | 5R21AG082401-02 |
| Project ID | NIH-11058499 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of aging-related diseases or those exhibiting symptoms associated with mitochondrial dysfunction.
✕Less likely to help
Patients with no known mitochondrial issues or those not experiencing aging-related diseases may not benefit from this research.
What this research studies
This research focuses on understanding the role of mitochondrial DNA mutations, particularly nonsense mutations, in human health and aging. By analyzing data from approximately 200,000 samples in the UK Biobank, the study aims to explore how these mutations contribute to increased mortality risk and their impact on cellular functions such as energy metabolism and cell signaling. The researchers will use advanced techniques like base editing to manipulate mitochondrial DNA and assess the effects on heart cell activity. This approach could provide insights into the mechanisms linking mitochondrial mutations to aging-related diseases.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for preventing or treating aging-related diseases linked to mitochondrial dysfunction.
How similar studies have gone: Previous research has shown that targeting mitochondrial mutations can lead to significant improvements in understanding and potentially treating related health issues, indicating a promising avenue for further exploration.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Arking, Dan E — Johns Hopkins University
- Study coordinator: Arking, Dan E
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.