How vitamin B12 levels affect mitochondrial disease onset and progression
Official title: Impact of vitamin B12 status on mitochondrial disease onset and progression
Funded at Cornell University · NIH-11350000 · Data updated 2026-11-12
This project looks at whether low versus normal vitamin B12 changes when mitochondrial DNA disorders start and how badly they affect people.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cornell University NIH-funded |
| Lab location | 1 site (Ithaca, United States) |
| Project start | May 1, 2026 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $440,900 |
| NIH project number | 1R21AG100723-01 |
| Project ID | NIH-11350000 on NIH RePORTER |
Who could benefit from this research
✓Could help
Best candidates are adults with known mtDNA-related mitochondrial disorders or a family history of mtDNA depletion syndromes, especially those with low or borderline B12 levels.
✕Less likely to help
People whose disease is driven by causes unrelated to DNA synthesis or who already have normal B12 levels and are on appropriate treatment may not receive direct benefit.
What this research studies
Researchers will study how different B12 levels change mitochondrial DNA health and cellular energy using lab-grown cells and biological samples from people with mtDNA disorders. They will measure blood B12, check for signs of mitochondrial DNA damage, and test how well cells make energy when B12 is low. The team will compare people with known mtDNA mutations to controls to see if B12 links with earlier onset or worse symptoms. Results will guide whether simple B12 testing or supplements might help people with these conditions.
Why it matters
Potential benefit: If successful, this work could support simple screening or B12 supplementation strategies that delay or reduce symptoms for some people with mitochondrial DNA disorders.
How similar studies have gone: Laboratory studies already show B12 is important for DNA building blocks and can harm mtDNA when deficient, but applying this idea to treating mitochondrial disease in people is relatively new.
Where this research is happening
-
Cornell University
Ithaca, United States Active
Researchers
- Principal investigator: Field, Martha S — Cornell University
- Study coordinator: Field, Martha S
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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.