Biomarkers and progress of antioxidant therapy for rare mitochondrial disorders

Lucia Chico, Daniele Orsucci, Annalisa Lo Gerfo, Letizia Marconi, Michelangelo Mancuso & Gabriele Siciliano. Expert Opinion on Orphan Drugs Volume 4, Issue 6, 2016, DOI:10.1080/21678707.2016.1178570



Promising clinical trials have been recently described including the use of different compounds and molecules that can reduce oxidative stress levels and simultaneously act as electron carriers to modulate mitochondrial electron flow.
Several compounds and therapies have been demonstrated to possess mitochondrial restoring and antioxidant properties such as vitamins and cofactors like Coenzyme Q10 (CoQ10) folic acid, vitamin B12, riboflavin, L-carnitine, and creatine, electron acceptors like vitamin C, free radical scavengers like idebenone, EPI-743, vitamin E, alpha lipoic acid, and curcumin, inhibitors of toxic metabolites (dicholoroacetate). Therapeutic potentials of these compounds have been suggested to restoring mitochondrial functions, transport and synaptic plasticity, and showed some neuroprotective role not only in rare mitochondrial disease, but also in other neurodegenerative disorders.
More evidence supports also the use of a combination of “mitococktails”, this referring to as the combination of several and different vitamins, with antioxidant supplements tailored for individual patients to increase mitochondrial respiration and scavenge free radicals to reduce ROS produced in mitochondria diseases.