08/29/2026
Researchers from institutions in the U.K. and Spain have identified a potential new therapeutic strategy for Friedreich’s ataxia (FA) by targeting enzymes involved in sphingolipid metabolism, a cellular process that regulates stress and survival.
The study, published in iScience, found that this pathway was disrupted in multiple laboratory models of FA, including patient-derived skin and nerve cells and a mouse model. Researchers focused on two experimental compounds: K6PC-5, which activates sphingosine kinase enzymes, and XY-14, which blocks lipid phosphate phosphatase enzymes.
In patient-derived cells, both compounds increased activity of the FXN gene, while XY-14 also increased production of frataxin, the protein deficient in FA. The compounds improved several measures of mitochondrial function, reduced cellular iron levels, increased activation of the protective protein Nrf2, and helped cells withstand oxidative stress.
In FA mice, treatment increased frataxin levels in the cerebellum and improved markers of mitochondrial function. The researchers concluded that their findings identify “sphingolipid metabolism as a promising therapeutic target for [FA].”
Click https://www.sciencedirect.com/science/article/pii/S2589004226018547 to read the study, “Dysregulation of sphingolipid-metabolizing enzymes in Friedreich’s ataxia: In vitro and in vivo insights into therapeutic targeting.”
