How genes and heat affect risk for malignant hyperthermia and heat stroke
Environmental and Epigenetic Modifiers of Susceptibility to Malignant Hyperthermia and Environmental Heat Stroke
['FUNDING_R01'] · BAYLOR COLLEGE OF MEDICINE · NIH-11235109
This project looks at whether heat and muscle activity change muscle and brown fat in ways that raise the risk of malignant hyperthermia or environmental heat stroke in people who carry RYR1 gene changes.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-11235109 on ClinicalTrials.gov |
What this research studies
If you carry an RYR1 change, researchers will study blood and muscle samples from people and use mouse models to see what happens to muscle and brown fat when body temperature rises or activity increases. They will measure calcium handling, metabolic signals like lactate and AMPK, and chemical tags on DNA (epigenetic changes) that can turn genes on or off. The team will compare responses between sexes and test whether heat-driven changes can be passed to offspring. Findings will be used to look for markers that predict risk and to suggest ways to prevent life-threatening heat reactions.
Who could benefit from this research
Good fit: Ideal candidates are people who carry pathogenic or suspected pathogenic RYR1 variants, or those with a personal or family history of malignant hyperthermia sensitivity or unexplained severe heat illness.
Not a fit: People whose heat illness is clearly caused by non-genetic factors or who do not carry RYR1-related changes are unlikely to directly benefit from this grant's findings.
Why it matters
Potential benefit: If successful, this work could help identify people at highest risk and point to new ways to prevent malignant hyperthermia or fatal heat stroke in those with RYR1 changes.
How similar studies have performed: Prior research has firmly linked RYR1 mutations to malignant hyperthermia and animal work supports heat- and metabolism-driven changes in muscle, but applying epigenetic and environmental modifiers to prevent heat stroke is a newer approach.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HAMILTON, SUSAN L — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: HAMILTON, SUSAN L
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.