Ataxia UK has funded a number of research projects in Friedreich’s ataxia (FA) by Dr Sara Anjomani-Virmouni, a researcher based at Brunel University, London. As a result of this funded research, Dr Anjomani-Virmouni has recently published a scientific paper looking at the effects of antioxidants in cell models of FA.
Friedreich’s Ataxia (FA) is caused by an abnormal expansion of DNA, specifically a repeat of DNA code (known as GAA) in the gene coding for the protein frataxin. This gene is responsible for the production of frataxin, a key protein needed in the cell, specifically the mitochondria. The DNA repeats lead to a reduction in frataxin being produced, leading to damage to the cell’s mitochondria via a mechanism known as oxidative stress.
This study aimed to evaluate the therapeutic potential of antioxidants, which are chemical compounds that aim to reduce the oxidative stress in the cell. The antioxidants in this study are dimethyl fumarate (DMF), N-acetylcysteine (NAC), and L-ascorbic acid (LAA). The study aimed to evaluate these in restoring mitochondrial function and increasing frataxin levels. This was assessed in cell models derived from FA patients, using a number of measures including cell survival, oxidative stress and frataxin levels following treatment with one of these antioxidants or a combination. Treatment with LAA, NAC, and DMF resulted in significant reductions in oxidative stress. They also had the effect of increasing frataxin both of which are normally reduced in FRDA. Notably, the combination of LAA and NAC showed consistent benefits, indicating their potential as therapies for FA.
Whilst this research is promising, it is based on cell models in the lab, so the effects of these antioxidants will need to be tested in humans to understand their effectiveness in people with FA.
Dr Anjomani-Virmouni reflected on the research:
“This study provides compelling evidence that the combination of NAC and LAA can improve key pathological features of FA including reduced oxidative stress, enhanced mitochondrial function and increased frataxin expression. These findings highlight a novel therapeutic approach by repurposing safe, widely available antioxidants as potential disease-modifying treatments for FA.”
Read about the Dr Anjomani-Virmouni’s research on FA funded by Ataxia UK here.
