Understanding how mitochondria manage calcium in muscle diseases
Biochemistry and molecular physiology of the mitochondrial calcium uniporter
['FUNDING_R01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11131132
This research explores how tiny powerhouses in our cells, called mitochondria, control calcium, which is important for conditions like Barth syndrome and muscle weakness.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11131132 on ClinicalTrials.gov |
What this research studies
Our cells' mitochondria need to carefully manage calcium to produce energy and prevent cell damage. When this calcium control goes wrong, it can lead to various health problems, including muscle weakness and fatigue, as seen in conditions like Barth syndrome. This project aims to understand how the mitochondrial calcium uniporter, a specific channel, works to regulate calcium. By rebuilding this channel in a lab setting, we hope to learn more about its function and how it contributes to muscle diseases and other related conditions.
Who could benefit from this research
Good fit: Patients with conditions such as Barth syndrome, metabolic myopathy, or muscular dystrophy could eventually benefit from the insights gained from this fundamental research.
Not a fit: Patients without conditions related to mitochondrial calcium regulation or muscle function may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of muscle diseases and potentially new ways to help patients with conditions like Barth syndrome.
How similar studies have performed: Previous studies have shown that problems with mitochondrial calcium regulation are linked to various diseases, suggesting this is a promising area of investigation.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GRABAREK, ZENON — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: GRABAREK, ZENON
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.
Conditions: Barth syndrome