Bruno Castro, PhD,  —

In a recent study, entitled “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets” and published in the journal Bioanalysis, U.S. researchers show that platelets from Friedreich’s ataxia patients can be used as a biomarker of the disease and as a tool to investigate…

Friedreich ataxia is an inherited neurodegenerative disease characterized by a progressive impairment of gait movements and sensory functions and an early age onset (< 25 years). This disease is caused by a mutation on the FXN gene (hyper-expansion of GAA trinucleotide repeats) leading to the lack of frataxin, a mitochondrial…