The new study, published in the Proceedings of the National Academy of Sciences, also revealed that the two-drug combination extended life span and alleviated symptoms in a mouse model of Leigh syndrome and helped delay progression of neurological symptoms in a mouse model of Friedreich’s ataxia. Leigh syndrome and Friedreich’s ataxia are rare genetic disorders that occur when mitochondria, which generate energy in the cell, malfunction, often leading to high levels of unused oxygen that can damage tissues.
Vamsi Mootha, an institute member at the Broad Institute who led the new study, has found over the last decade that exposure to low-oxygen conditions improved symptoms in mouse models of these two rare diseases, which in humans affect the nervous system, are debilitating and can be fatal.