Decades after two brothers died from a mitochondrial disease, scientists identified the causative gene mutation and say the mutation should be added to carrier screening programs.

A new study found that otherwise mild changes in the DNA in mitochondria combine with familiar nuclear DNA to dramatically affect heart disease in animals.

CHOP researchers are working to better understand how mitochondria exchange signals with a cell’s nucleus in ways important to our health and disease.

Participants discussed advancements in the mitochondrial medicine field, attended seminars, participated in team-building activities, and created further collaborative opportunities.

As clinical trials aim to attain the first FDA-approved treatments for mitochondrial disease, a study reports patient and family preferences.

Three Frontier Programs (NeoCLD Program, Mitochondrial Medicine, and Pediatric Airway Disorders) have made world-changing discoveries, delivered lifesaving therapies, and provided exceptional care.

Systematic laboratory studies find some antioxidants should be tested in clinical trials as treatments for patients with mitochondrial disease.

Children with mitochondrial diseases who suffered acute metabolic strokes benefited from rapid IV treatment with the amino acid arginine, with no side effects.

Lacking effective drug treatments, patients with mitochondrial disease may use many vitamins and supplements — most of which are unregulated and untested.

Physicians who see patients with mitochondrial disease have a practical new tool: the first published care standards to guide clinical care.