A new study has observed improved mitochondrial function and biogenesis in fibroblasts from a patient with Friedrich ataxia (FA).

The study, published in Biology, found that adenosine’s benefits led to cellular iron homeostasis and could represent a new therapeutic approach in FA.

“Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of Friedreich’s ataxia,” the authors wrote. “Here, we investigated the protective effects of adenosine against mitochondrial dysfunction and impaired mitochondrial biogenesis in L-buthionine sulfoximine (BSO)-induced oxidative stress in dermal fibroblasts derived from an FRDA patient.”

The research team obtained dermal fibroblasts from a 30-year-old male patient with FA and also from a healthy 33-year-old man. The normal and FA fibroblasts were treated with adenosine, a purine metabolite essential for ATP synthesis, and fibroblasts in Dulbecco’s Modified Eagle Medium without adenosine served as controls. After adenosine treatment, the fibroblasts were treated with BSO to induce oxidative stress.

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Various assays were performed to evaluate gene expression, cell viability, mitochondrial membrane potential (MMP) and biogenesis in the treated and control fibroblasts. Relative MMP in cells affects cellular energy storage and is an indicator of mitochondrial function.

In the BSO-treated fibroblasts, the authors observed reduced production of ATP, mitochondrial membrane dysfunction, and biogenesis disruption, as well as changes in gene expression. The adenosine treatment was found to restore MMP, improve biogenesis, and promote the production of ATP. In FA, excessive iron accumulation in the mitochondrial matrix is common, and adenosine treatment led to improvements in cellular iron homeostasis.

The authors concluded that adenosine was protective against BSO-induced oxidative stress and apoptosis in FA fibroblasts. Furthermore, it was able to improve mitochondrial function and regulate biogenesis, suggesting a potential therapeutic role for adenosine in FA.


Lew SY, Mohd Hisam NS, Phang MWL, et al. Adenosine improves mitochondrial function and biogenesis in Friedreich’s ataxia fibroblasts following l-buthionine sulfoximine-induced oxidative stress. Biology. Published online April 6, 2023. doi:10.3390/biology12040559