ABOVE: MODIFIED FROM © SCIENCE PHOTO LIBRARY, KAGE MIKROFOTOGRAFIE GBR
A new era in research on Friedreich’s ataxia, a rare, fatal neurodegenerative disease, began in 1996 when, 133 years after the disease was first characterized, researchers showed it is caused by mutations in the gene now known as FXN. While this finding was an important advance, it also presented researchers with the daunting task of determining why neurons with FXN mutations were dying in Friedreich’s ataxia patients. To meet this challenge, a team at the University of Utah turned to an unlikely source: the baker’s yeast Saccharomyces cerevisiae. A mere 15 months later, using genome editing, growth assays, and biochemical techniques, the Utah team demonstrated that FXN mutations cause fatal mitochondrial damage. This finding identified an important therapeutic target, and clinical trials have recently demonstrated that two drugs targeting mitochondrial function improve symptoms in Friedreich’s ataxia patients.
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