Lin Xian, Shim Hoon, Cai Huaibin
Unit of Transgenesis, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35, Room 1A116, MSC 3707, 35 Convent Drive, Bethesda, MD 20892, United States.
Neurobiol Aging. 2007 Oct;28(10):1628-30. doi: 10.1016/j.neurobiolaging.2006.07.014. Epub 2006 Sep 12.
Dysfunction of the ALS2 gene has been linked to one form of juvenile onset autosomal recessive amyotrophic lateral sclerosis (ALS). Previous in vitro studies suggest that over-expression of ALS2 protects cells from mutant Cu/Zn superoxide dismutase (SOD1)-induced cytotoxicity. To test whether ALS2 plays a protective role against mutant SOD1-mediated motor neuron degeneration in vivo, we examined the progression of motor neuron disease in SOD1(G93A) mice on an ALS2 null background. Our data suggest that deficiency in the ALS2 gene does not affect the pathogenesis of SOD1(G93A) mice.
ALS2基因功能障碍与一种青少年型常染色体隐性遗传性肌萎缩侧索硬化症（ALS）相关。先前的体外研究表明，ALS2的过表达可保护细胞免受突变型铜/锌超氧化物歧化酶（SOD1）诱导的细胞毒性作用。为了测试ALS2在体内是否对突变型SOD1介导的运动神经元变性起保护作用，我们研究了ALS2基因缺失背景下SOD1（G93A）小鼠运动神经元疾病的进展情况。我们的数据表明，ALS2基因缺陷并不影响SOD1（G93A）小鼠的发病机制。
