Description
University of Pittsburgh researchers have identified a novel mutation in the endogenous Drosophila mitochondrial ATP6 gene which conferes neuromuscular impairment. There are several known human diseases, namely NARP, MILS and FBSN, that result form mutation of the ATP6 gene. Our mutation represents, to our knowledge, the first known isolated mitochondrial mutation in an animal system. Because of the paralysis, behavioral and degenerative phenotypes of these animals, they could be used to screen for therapeutic targets or directly to screen for therapeutic compounds in vivo.IP Status
Research Tool
