What We Know:
Friedreich’s ataxia (FRDA) is a severe and progressive neurodegenerative disorder caused by lower production of the frataxin protein. Its deficiency leads to complex changes in multiple organs of FRDA patients, with neurons and heart cells being most affected by lower levels of frataxin. As all functions of an organism are interconnected, the deficiency of a single, critical protein has severe consequences for other genes and proteins in cells. Identifying and defining these changes that occur in FRDA requires sensitive analyses of many patient samples.
Our Plan to Help:
Dr. Napierala’s team performed a detailed analysis of all active genes in a large number of FRDA samples and compared the levels of their products to those in unaffected samples. Dr. Napierala’s data indicates that the levels of some proteins (enzymes) responsible for eliminating certain cellular toxins are decreased in cells from FRDA patients compared to cells from unaffected individuals. Importantly, these toxins are particularly harmful to neurons and heart cells. In the proposed project, Dr. Napierala will investigate the levels and activity of the identified enzymes using engineered FRDA neuronal cell line models to determine if they are suitable therapeutic candidates.