Two new studies of neurodegenerative diseases linked to mitochondrial defects offer hope for developing a new biomarker for research and diagnostics, and a drug for treating such diseases.
One of the new studies shows that a loss of the frataxin protein causes a decrease in mitochondrial number in blood and skin cells from patients with Friedreich's ataxia. Mice with a deficiency in the protein also have fewer mitochondria.
In the second study, Cortopassi and colleagues focused on the drug dimethyl fumarate, or DMF, already approved by the FDA for treating adult patients with a relapsing form of multiple sclerosis as well as psoriasis, an autoimmune skin disease.
Neurodegenerative disease mechanism and potential drug identified: Offers hope for patients with Friedreich's Ataxia and related diseases
Journal Reference:
- Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan L. Perlman, Gino A. Cortopassi. Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans. Human Molecular Genetics, 2017; 10.1093/hmg/ddx141
