Potential New Treatment for Freidreich’s Ataxia

Friedreich’s Ataxia is a genetically linked disorder characterized by loss of muscle control, fatigue, vision or hearing impairment, slurred speech, abnormal spine curvature, and serious heart conditions. The genetic defect is an expanded repeat sequence in the DNA that forms an R-loop during gene expression and effectively reduces the expression of frataxin, a protein involved in cell metabolism and iron storage. Leading researcher Liande Li from David R. Corey’s lab at University of Texas Southwestern Medical Center created small molecules made of genetic material that were able to inhibit the mutant sequence from forming the R-loop and restore the expression of frataxin in patient cells. Compared to other therapeutic agents tested for Freidreich’s Ataxia, these small genetic material molecules have the advantage of being highly specific with no detectable effects on other genes and similar molecules are already being tested in clinical trials for other neurological disorders. These molecules hold great promise not only for treating this rare yet devastating neurological disorder, but also for more common disorders with expanded mutant DNA repeat sequences such as Huntingdon’s Disease and spinal muscular atrophy.