Yamashita Takenari, Kwak Shin
Division of Clinical Biotechnology, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo.
Rinsho Shinkeigaku. 2014;54(12):1151-4. doi: 10.5692/clinicalneurol.54.1151.
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease affecting healthy middle-aged individuals. Mislocalization of TAR DNA binding protein of 43 kDa (TDP-43) or TDP-43 pathology observed in the spinal motor neurons is the pathological hallmark of ALS. The mechanism generating TDP-43 pathology remained uncertain. Several reports suggested that cleavage of TDP-43 into aggregation-prone fragments might be the earliest event. Therefore, elucidation of the protease(s) that is responsible for TDP-43 cleavage in the motor neurons is awaited. ALS-specific molecular abnormalities other than TDP-43 pathology in the motor neurons of sporadic ALS patients include inefficient RNA editing at the GluA2 glutamine/arginine (Q/R) site, which is specifically catalyzed by adenosine deaminase acting on RNA 2 (ADAR2). We have developed the conditional ADAR2 knockout (AR2) mice, in which the ADAR2 gene is targeted in motor neurons. We found that Ca(2+)-dependent cysteine protease calpain cleaved TDP-43 into aggregation-prone fragments, which initiated TDP-43 mislocalization in the motor neurons expressing abnormally abundant Ca(2+)-permeable AMPA receptors. Here we summarized the molecular cascade leading to TDP-43 pathology observed in the motor neurons of AR2 mice and discussed possible roles of dysregulation of calpain-dependent cleavage of TDP-43 in TDP-43 pathology observed in neurological diseases in general.
肌萎缩侧索硬化症(ALS)是影响健康中年个体的最常见的成人发病型运动神经元疾病。在脊髓运动神经元中观察到的43 kDa的TAR DNA结合蛋白(TDP-43)定位错误或TDP-43病理改变是ALS的病理标志。产生TDP-43病理改变的机制仍不确定。几份报告表明,将TDP-43切割成易于聚集的片段可能是最早发生的事件。因此,人们期待着阐明负责运动神经元中TDP-43切割的蛋白酶。散发性ALS患者运动神经元中除TDP-43病理改变外的ALS特异性分子异常包括GluA2谷氨酰胺/精氨酸(Q/R)位点的RNA编辑效率低下,这是由作用于RNA 2(ADAR2)的腺苷脱氨酶特异性催化的。我们已经培育出条件性ADAR2基因敲除(AR2)小鼠,其中ADAR2基因在运动神经元中被靶向。我们发现,钙依赖性半胱氨酸蛋白酶钙蛋白酶将TDP-43切割成易于聚集的片段,这在表达异常丰富的钙通透性AMPA受体的运动神经元中引发了TDP-43的定位错误。在这里,我们总结了导致在AR2小鼠运动神经元中观察到的TDP-43病理改变的分子级联反应,并讨论了钙蛋白酶依赖性切割TDP-43失调在一般神经疾病中观察到的TDP-43病理改变中的可能作用。