The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu,Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease

摘要: Dominant mutations of the SOD1 gene encoding Cu,Zn superoxide dismutase have been found in members certain families with familial amyotrophic lateral sclerosis (ALS). To better understand contribution pathogenesis ALS, we developed transgenic mice expressing one ALS. These animals display clinical and pathological features closely resembling human Early changes observed these were intra-axonal dendritic vacuoles due to dilatation endoplasmic reticulum vacuolar degeneration mitochondria. We reported that Golgi apparatus spinal cord motor neurons patients sporadic ALS is fragmented atrophic. In this study show for an mutation a lesion identical humans mice, stacks cisternae are shorter than normal organelle, there reduction Golgi-associated vesicles adjacent rough reticulum. Furthermore, fragmentation occurs early, presymptomatic stage usually precedes development changes. Transgenic overexpressing wild-type normal. early may adverse functional effects, because newly synthesized proteins destined fast axoplasmic transport pass through apparatus.