How extra calcium in heart cell powerhouses affects mitochondrial heart disease in children

Metabolic Impact and Mechanism of Enhanced Mitochondrial Calcium Uptake in Mitochondrial Cardiomyopathies

NIH-funded research Utah State Higher Education System--University of Utah · NIH-11332250

This project looks at whether increased calcium entry into mitochondria helps heart cells make more energy in children with mitochondrial cardiomyopathy.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionUtah State Higher Education System--University of Utah NIH-funded
Lab location1 site (Salt Lake City, United States)
Project IDNIH-11332250 on NIH RePORTER

What this research studies

Researchers will examine how mutations that damage mitochondrial energy machinery change a protein channel that controls calcium entry into mitochondria. They found that when Complex I is faulty, cells stop degrading the mitochondrial calcium uniporter, causing more channels to build up and supporting ATP production, and they will study whether this is helpful or harmful for the heart. The team uses fruit flies, mice, and human tissue or sample analyses together with molecular tools like gene-delivery viruses and biochemical assays to trace the pathway. Their goal is to identify molecular steps that could be targeted to protect or improve heart function in affected children.

Who could benefit from this research

Good fit: Children diagnosed with mitochondrial cardiomyopathy or other confirmed mitochondrial oxidative phosphorylation defects (especially involving Complex I) and families willing to provide medical records or tissue/samples would be the most relevant participants for related efforts.

Not a fit: People whose heart disease is not caused by mitochondrial defects, or adults with unrelated forms of cardiomyopathy, are unlikely to receive direct benefit from this research.

Why it matters

Potential benefit: If successful, this work could point to new treatments that help heart cells make more energy and improve heart function and survival for children with mitochondrial cardiomyopathy.

How similar studies have performed: Earlier laboratory work by the team showed the CLIPT mechanism across fruit flies, mice, and humans, but applying these findings to develop treatments for children remains new and unproven.

Where this research is happening

Salt Lake City, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.