Gene expression profiling of muscles from transgenic humanSODG93A mice at presymptomatic stage

The transgenic mice expressing the human mutated form (G93A) of the SOD1 gene represent a valuable model of Amyotrophic Lateral Sclerosis (ALS). SOD1 is one of the main causative genes of familial ALS which accounts for 10% of cases. These transgenic animals develop a motorneuronal pathology that recapitulates well the neuropathological features occuring in ALS patients, and the progression of the disease can be monitored by a series of motor tests. Gastrocnemius is the first and most affected muscle in the disease, while triceps is relatively spared. Gene expression data of degenerating motor neurons at different disease stages are already available, while gene expression data on the muscle tissue are missing. Our aim is to define the role of muscle in motor neuron degeneration in ALS. Keywords: Single stage analysis (presymptomatic stage, 7 week-old mice) We considered two sets of muscle at presymptomatic stage (7 weeks): gastrocnemius and triceps from 4 transgenic SOD1G93A and 4 non-transgenic mice (NTg).表达人源突变型SOD1基因（G93A）的转基因小鼠，是肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis, ALS）极具价值的研究模型。SOD1是家族性ALS的主要致病基因之一，家族性ALS约占所有ALS病例的10%。此类转基因动物可出现运动神经元病理改变，可较好地复现ALS患者的神经病理特征，且疾病进展可通过一系列运动功能实验进行监测。腓肠肌是该病最早且受累最严重的肌肉，而三头肌则相对不受累。目前已有不同疾病阶段的退变运动神经元基因表达数据，但肌肉组织的基因表达数据仍存在空白。本研究旨在明确肌肉在ALS运动神经元退变过程中的作用。关键词：单阶段分析（症状前阶段，7周龄小鼠）本研究纳入了症状前阶段（7周龄）的两组肌肉组织：来自4只SOD1G93A转基因小鼠与4只非转基因（non-transgenic, NTg）小鼠的腓肠肌和三头肌。