Changing how long the Lamin A/C protein lasts in cells
Exploring modulation of Lamin A/C protein lifetime as a novel axis of regulation in heath and disease
This project looks at whether adjusting how long the Lamin A/C protein remains in different tissues could help people with LMNA-related heart, muscle, and premature‑aging conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11289393 on NIH RePORTER |
What this research studies
As a patient, I would be told that researchers are studying a protein called Lamin A/C that helps support the nucleus inside our cells. They measure how long this protein lasts in different tissues and how disease-causing LMNA mutations change that lifetime, using lab-grown cells, animal models, and human tissue samples. The team will test ways to speed up or normalize Lamin A/C turnover to see whether that protects heart and muscle cells from damage. Their work aims to explain why the heart, muscle, skin, fat, and bone are especially affected and to identify targets for new treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with LMNA mutations or diagnosed laminopathies, including inherited heart or muscle disease and Hutchinson‑Gilford progeria patients, or those willing to donate tissue samples for research.
Not a fit: People whose conditions are not related to LMNA/Lamin A/C dysfunction or who lack LMNA mutations are unlikely to benefit directly from this research.
Why it matters
Potential benefit: If successful, this work could point to new treatments that prevent or reduce tissue damage in people with LMNA-related diseases like certain cardiomyopathies and progeria.
How similar studies have performed: Previous therapies targeting progerin processing in progeria have shown some clinical benefit, but directly changing Lamin A/C protein lifetime is a newer and largely untested approach.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Buchwalter, Abigail Lynn — University of California, San Francisco
- Study coordinator: Buchwalter, Abigail Lynn
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.