In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children’s Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.
Diseases that affect mitochondria—specialized compartments within cells that contain their own DNA and convert the food we eat into energy needed to sustain life—typically interfere with mitochondrial function, but in these two patients, mitochondria were hyperactive.
So, as reported in the New England Journal of Medicine, even though the siblings were eating far more calories than needed, their body weights remained very low.
Genome sequencing revealed a mutation in an enzyme called the mitochondrial ATP synthase, which is required by cells to generate the energy storage molecule ATP.
Experiments indicated that this mutation creates “leaky” mitochondria that dissipate energy—a process called mitochondrial uncoupling.
