How changes in the PRKACA protein cause endocrine disorders and certain tumors
Structural and dynamic basis for PRKACA-dependent signalopathies
['FUNDING_R01'] · UNIVERSITY OF MINNESOTA · NIH-11321712
Researchers are using high-resolution molecular techniques to understand how alterations in the PRKACA protein lead to hormone problems like Cushing’s and cancers such as fibrolamellar liver cancer.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MINNESOTA (nih funded) |
| Locations | 1 site (MINNEAPOLIS, UNITED STATES) |
| Trial ID | NIH-11321712 on ClinicalTrials.gov |
What this research studies
We will examine the PRKACA protein to see how specific mutations, insertions, or fusion events change its shape and behavior. Using advanced liquid-state NMR together with biochemical and biophysical lab tests, the team will map how PRKACA interacts with its normal regulatory partners. The work compares normal and altered proteins to determine whether these changes make the enzyme stay active or change which targets it phosphorylates. By tracing these molecular steps, researchers hope to connect specific PRKACA changes to conditions like Cushing’s syndrome, cardiac myxomas, and fibrolamellar hepatocellular carcinoma.
Who could benefit from this research
Good fit: People whose tumors or endocrine conditions are known or suspected to involve PRKACA mutations, insertions, or fusions (for example some cases of Cushing’s syndrome, cardiac myxomas, or fibrolamellar hepatocellular carcinoma) would be most relevant to this research.
Not a fit: Patients with conditions that are not linked to PRKACA alterations are unlikely to see direct benefit from this project in the near term.
Why it matters
Potential benefit: If successful, this work could reveal precise molecular defects that point to new diagnostics or targeted treatments for PRKACA-related endocrine disorders and tumors.
How similar studies have performed: Genetic and biochemical studies have previously linked PRKACA changes to disease, but applying high-resolution liquid-state NMR to define the detailed structural and dynamic mechanisms is relatively novel.
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.