Bruijn L I, Becher M W, Lee M K, Anderson K L, Jenkins N A, Copeland N G, Sisodia S S, Rothstein J D, Borchelt D R, Price D L, Cleveland D W
Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla 92093, USA.
Neuron. 1997 Feb;18(2):327-38. doi: 10.1016/s0896-6273(00)80272-x.
High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property. We report here that even low levels of another mutant, G85R, cause motor neuron disease characterized by an extremely rapid clinical progression, without changes in SOD1 activity. Initial indicators of disease are astrocytic inclusions that stain intensely with SOD1 antibodies and ubiquitin and SOD1-containing aggregates in motor neurons, features common with some cases of SOD1 mutant-mediated ALS. Astrocytic inclusions escalate markedly as disease progresses, concomitant with a decrease in the glial glutamate transporter (GLT-1). Thus, the G85R SOD1 mutant mediates direct damage to astrocytes, which may promote the nearly synchronous degeneration of motor neurons.
此前研究表明,高水平的家族性肌萎缩侧索硬化症(ALS)相关超氧化物歧化酶1(SOD1)突变体G93A和G37R可通过获得性毒性特性在小鼠中介导疾病。我们在此报告,即使是另一种突变体G85R的低水平也会导致运动神经元疾病,其临床进展极快,且SOD1活性无变化。疾病的初始指标是星形胶质细胞内含物,其用SOD1抗体染色强烈,以及运动神经元中含有泛素和SOD1的聚集体,这些特征与某些SOD1突变体介导的ALS病例相同。随着疾病进展,星形胶质细胞内含物显著增加,同时胶质谷氨酸转运体(GLT-1)减少。因此,G85R SOD1突变体介导对星形胶质细胞的直接损伤,这可能促进运动神经元几乎同步的退化。