The research, funded by the Foundation and entitled “Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”, has been done by Fabiana Longo and the group headed by Francesca Maltecca at Ospedale San Raffaele, Milan, Italy. The study shows that sacsin is almost absent in a large set of ARSACS patient skin fibroblasts, regardless of the nature of the mutation. Nascent mutant sacsin undergoes preemptive cotranslational degradation, a mechanism that emerges as a novel cause of a human disease. These findings have important implication for diagnosis and genotype-phenotype correlation. We indeed propose that sacsin levels should be included in the diagnostic algorithm for ARSACS.
Dr. Maltecca’s ARSACS research paper published in Neurology
