How mitochondria change ribosome RNA and affect genetic disease
New Mechanisms of the Pseudouridine Synthase Module in Mitoribosome Assembly
This project looks at how a mitochondrial enzyme changes ribosomal RNA and how that may matter for people with inherited mitochondrial disorders.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project ID | NIH-11126638 on NIH RePORTER |
What this research studies
As someone affected by a mitochondrial condition, it's helpful to know researchers will study a mitochondrial enzyme called RPUSD4 that edits ribosomal RNA. They will use structural biology to visualize the enzyme, genomics to read RNA changes, and biochemistry to test how mutations alter function. The team will examine why certain disease-linked mutations disrupt this RNA modification and how the enzyme recognizes assembling mitochondrial ribosomes. Their combined lab approaches aim to connect molecular changes to patterns seen in mitochondrial genetic diseases.
Who could benefit from this research
Good fit: People with inherited mitochondrial disorders or known mutations affecting mitochondrial rRNA or protein synthesis would be most relevant to this research.
Not a fit: Patients whose conditions do not involve mitochondrial genetic defects or mitochondrial protein synthesis are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could explain why some mitochondrial mutations cause disease and suggest new targets for diagnostics or future therapies.
How similar studies have performed: Previous laboratory studies have linked rRNA pseudouridylation to mitochondrial disease, but the precise molecular mechanisms are largely unproven and this project explores new details.
Where this research is happening
Amherst, United States
- State University of New York at Buffalo — Amherst, United States (Active)
Researchers
- Principal investigator: Pillon, Monica — State University of New York at Buffalo
- Study coordinator: Pillon, Monica
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.