Understanding how mutations in the PRKACA gene affect certain diseases.
Structural and dynamic basis for PRKACA-dependent signalopathies
This study is looking at a gene called PRKACA to see how changes in it might cause problems like Cushing’s syndrome and some cancers, so that patients can better understand their conditions and possibly find new treatment options.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Minnesota NIH-funded |
| Lab location | 1 site (Minneapolis, United States) |
| Project ID | NIH-11052638 on NIH RePORTER |
What this research studies
This research investigates the PRKACA gene, which is crucial for the function of protein kinase A (PKA-C), and how mutations in this gene are linked to various endocrine diseases, including Cushing’s syndrome and certain types of cancer. By employing advanced techniques like liquid-state NMR and biophysical methods, the study aims to uncover the molecular mechanisms that lead to disease progression due to these mutations. Patients may benefit from a deeper understanding of their conditions and potential new therapeutic targets that arise from this research.
Who could benefit from this research
Good fit: Ideal candidates for participation or benefit from this research include individuals diagnosed with Cushing’s syndrome, fibrolamellar hepatocellular carcinoma, or related endocrine disorders.
Not a fit: Patients without any genetic mutations in the PRKACA gene or those not suffering from the specified endocrine diseases may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients suffering from endocrine diseases linked to PRKACA mutations.
How similar studies have performed: Previous research has shown promising results in understanding the role of genetic mutations in endocrine diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Minneapolis, United States
- University of Minnesota — Minneapolis, United States (Active)
Researchers
- Principal investigator: Veglia, Gianluigi — University of Minnesota
- Study coordinator: Veglia, Gianluigi
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.