Study Sheds Light on Disabling Human Mitochondrial Disorders

The current study focused on an inherited genetic deficiency that prevents the production of coenzyme Q, a critical antioxidant and component of the energy-generating respiratory chain.

A human drug that both prevents and cures kidney failure in mice sheds light on disabling human mitochondrial disorders, and may represent a potential treatment in people with such illnesses.

"There are no effective cures for mitochondrial diseases, even in animals," said study leader Marni J. Falk, M.D., who cares for children in the Mitochondrial-Genetics Disease Clinic at The Children's Hospital of Philadelphia. "So these striking results in mice may suggest a novel therapy of direct relevance for humans."

Mitochondria are tiny structures that operate as powerhouses within human and animal cells, generating energy from food. As such, they are fundamental to life. Failures of proper mitochondria function impair a wide range of organ systems.