Two new studies of progressive, neurodegenerative diseases linked to defects in cells’ mitochondria offer hope for developing a new biomarker for research and diagnostics, and a drug for treating such diseases, report researchers at the University of California, Davis.
Both studies, co-authored by biochemist Gino Cortopassi in the UC Davis School of Veterinary Medicine, have implications for Friedreich’s ataxia, a rare, inherited disease that affects 6,000 people in the United States.
Friedreich’s is characterized by progressive neurodegeneration in the spine, as well as muscle weakness, heart disease and diabetes.
Findings from the two studies are being published this week in the journal Human Molecular Genetics.
Friedrich’s ataxia is one of several serious diseases caused by dysfunctional mitochondria — microscopic structures inside the cell that generate the cell’s chemical energy, and play a key role in cell growth, function and death.
In addition to Friedreich’s ataxia, other mitochondrial diseases include Leber’s optic neuropathy, myoneurogenic gastrointestinal encephalopathy, and myoclonic epilepsy with ragged red fibers — complex names for unusual but devastating disorders.
There are currently no Food and Drug Administration-approved therapies for treating mitochondrial diseases, including Friedreich’s ataxia.