A novel approach of human embryonic stem cells therapy in treatment of Friedreich’s ataxia

Introduction: Friedreich’s ataxia (FRDA) is an autosomal recessive inherited disease that damages nervous system and impairs muscle coordination. FRDA usually begins in childhood and is caused by expanded GAA triplet repeat within the first intron of the frataxin (FXN) gene leading to reduced level of mitochondrial protein frataxin. There is no effective treatment for FRDA. If stem cells are transplanted near the affected cells under oxidative stress in FRDA patients, they can produce tropic factors, thereby increasing the survival of the cells. In FRDA, the mechanism to remove the reactive oxygen species (ROS) is impaired leading to oxidative stress and cell death. Stem cells may have ability to protect cells susceptible to oxidative stress that occurs in FRDA. In our previous studies we have shown the improvement in the patients’ condition who were suffering from cerebral palsy and cortical visual impairment after human embryonic stem cells (hESCs) therapy. Case Series: Herein, I report three cases of FRDA patients who were treated with hESCs therapy. All the patients were suffering from problems like difficulty in walking, standing or climbing stairs and muscle weakness. After undergoing hESCS therapy, improvement in condition of all the patients was observed. Conclusion: The hESCs therapy was effective in treating patients with FRDA. Further research is required to understand the mechanism of action of hESCs. (This page in not part of the published article.) International Journal of Case Reports and Images, Vol. 6 No. 5, May 2015. ISSN – [0976-3198] Int J Case Rep Images 2015;6(5):261–266. www.ijcasereportsandimages.com Shroff 261 CASE REPORT OPEN ACCESS A novel approach of human embryonic stem cells therapy in treatment of Friedreich’s ataxia