Investigating new epigenetic repressor complexes involved in silencing the FXN locus in cells from FRDA patients

The GAA mutation in the FXN gene leads to the gene being “turned off” through chemical changes in its structure. One of these changes is DNA methylation, a process that adds small chemical tags to the gene, preventing it from being active. Additionally, certain proteins bind to the gene and further silence it by altering how the DNA is packaged. Scientists are still working to understand exactly how these changes occur and whether they can be reversed to restore the function of the gene and frataxin production. A group of proteins called the HUSH complex is known to help silence genes in various situations, including preventing harmful viruses from hijacking our cells. The HUSH complex works alongside other proteins that modify DNA structure to keep certain genes switched off. This study aims to explore whether the HUSH complex and other gene-silencing proteins are responsible for silencing the FXN gene in FA. Understanding these interactions could reveal new ways to “turn on” the FXN gene and develop potential treatments for FA.