Although mitochondrial dysfunction has been associated with redox dysregulation, in vivo human brain evidence of such an association is currently lacking. This study aimed to use 1H MRS to measure brain levels of the primary tissue antioxidant glutathione (GSH) in patients with MELAS – a primary mitochondrial disorder – as an objective marker of CNS oxidative stress in such disorders. Compared to healthy control subjects, patients with MELAS showed a 31% lower cortical GSH levels, thereby directly implicating CNS oxidative stress as a player in the disorder and pointing to potential therapeutic interventions based on elevating the levels of cerebral antioxidants.
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