Research conducted at the Oregon National Primate Research Center at Oregon Health & Science University helps answer some long-standing questions about how certain disease-causing gene mutations are inherited.

A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision in people of all ages, but primarily males ages 20-40.

Analysis of ancient mitochondrial DNA (mtDNA) has been used to establish migration and population patterns for American indigenous cultures during the time before Christopher Columbus sailed to the Americas.

A collaboration by an international consortium of researchers led by scientists at Baylor College of Medicine and the Montreal Neurological Institute of McGill University have linked the discovery of a mutation in a mitochondrial gene in fruit flies that causes the loss of neurologic function (a neurodegenerative set of characteristics or phenotype) and a progressive recessively inherited ataxia or neurodegenerative disorder in humans.

Researchers at the UCLA stem cell center and the departments of chemistry and biochemistry and pathology and laboratory medicine have identified, for the first time, a generic way to correct mutations in human mitochondrial DNA by targeting corrective RNAs, a finding with implications for treating a host of mitochondrial diseases.