Fixing harmful mitochondrial DNA mutations
Setting the Stage for Replacement of Mitochondrial Genes
['FUNDING_R01'] · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · NIH-11160701
This project develops small gene-editing tools to remove or correct harmful mitochondrial DNA mutations for people with inherited mitochondrial disorders.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MIAMI SCHOOL OF MEDICINE (nih funded) |
| Locations | 1 site (CORAL GABLES, UNITED STATES) |
| Trial ID | NIH-11160701 on ClinicalTrials.gov |
What this research studies
If you or a loved one has a mitochondrial mutation, this project is working to build tiny gene editors that can find and remove or fix the bad mitochondrial DNA inside cells. The team will test a monomeric enzyme platform called mitoARCUS in lab-grown cells and human motor neuron organoids, and they will try delivery in mice (retina) to see if removing mutant DNA restores function. They will also test a newer mitochondrial base editor (DdCBE) that can change single DNA letters without using CRISPR guide RNAs. Work is being done at the University of Miami with industry and academic partners to move these tools toward possible future treatments.
Who could benefit from this research
Good fit: People with mitochondrial diseases caused by the specific mutations targeted here, such as the 4.9kb common deletion or the MELAS m.3243G mutation, would be the most likely candidates.
Not a fit: Patients whose mitochondrial problems arise from other mutations, non-genetic causes, or who already have advanced organ damage may not benefit from these specific approaches.
Why it matters
Potential benefit: If successful, these tools could reduce mutant mitochondrial DNA and restore cell function, paving the way for treatments for some inherited mitochondrial diseases.
How similar studies have performed: Related approaches like mitoTALENs and other mitochondrial nucleases have shifted mutant DNA levels in cells and animals, and mitochondrial base editors are a newer but promising technology currently in early animal testing.
Where this research is happening
CORAL GABLES, UNITED STATES
- UNIVERSITY OF MIAMI SCHOOL OF MEDICINE — CORAL GABLES, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MORAES, CARLOS TORRES — UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- Study coordinator: MORAES, CARLOS TORRES
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.