Marden Jennifer J, Harraz Maged M, Williams Aislinn J, Nelson Kathryn, Luo Meihui, Paulson Henry, Engelhardt John F
Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
J Clin Invest. 2007 Oct;117(10):2913-9. doi: 10.1172/JCI31265.
Amyotrophic lateral sclerosis (ALS), one of the most common adult-onset neurodegenerative diseases, has no known cure. Enhanced redox stress and inflammation have been associated with the pathoprogression of ALS through a poorly defined mechanism. Here we determined that dysregulated redox stress in ALS mice caused by NADPH oxidases Nox1 and Nox2 significantly influenced the progression of motor neuron disease caused by mutant SOD1(G93A) expression. Deletion of either Nox gene significantly slowed disease progression and improved survival. However, 50% survival rates were enhanced significantly more by Nox2 deletion than by Nox1 deletion. Interestingly, female ALS mice containing only 1 active X-linked Nox1 or Nox2 gene also had significantly delayed disease onset, but showed normal disease progression rates. Nox activity in spinal cords from Nox2 heterozygous female ALS mice was approximately 50% that of WT female ALS mice, suggesting that random X-inactivation was not influenced by Nox2 gene deletion. Hence, chimerism with respect to Nox-expressing cells in the spinal cord significantly delayed onset of motor neuron disease in ALS. These studies define what we believe to be new modifier gene targets for treatment of ALS.
肌萎缩侧索硬化症(ALS)是最常见的成人起病的神经退行性疾病之一,目前尚无治愈方法。氧化还原应激增强和炎症与ALS的病理进展有关,但其机制尚不明确。在此,我们确定由NADPH氧化酶Nox1和Nox2引起的ALS小鼠氧化还原应激失调显著影响了由突变型SOD1(G93A)表达导致的运动神经元疾病的进展。删除任一Nox基因均可显著延缓疾病进展并提高生存率。然而,Nox2缺失比Nox1缺失使50%生存率提高得更显著。有趣的是,仅含有1个活性X连锁Nox1或Nox2基因的雌性ALS小鼠疾病发作也显著延迟,但疾病进展速率正常。Nox2杂合雌性ALS小鼠脊髓中的Nox活性约为野生型雌性ALS小鼠的50%,这表明随机X染色体失活不受Nox2基因缺失的影响。因此,脊髓中表达Nox的细胞的嵌合现象显著延迟了ALS中运动神经元疾病的发作。这些研究确定了我们认为是治疗ALS的新修饰基因靶点。