Inserm-Avenir, Mediterranean Institute of Neurobiology, INMED, Marseille, France.
PLoS One. 2011;6(9):e23764. doi: 10.1371/journal.pone.0023764. Epub 2011 Sep 2.
NECDIN belongs to the type II Melanoma Associated Antigen Gene Expression gene family and is located in the Prader-Willi Syndrome (PWS) critical region. Necdin-deficient mice develop symptoms of PWS, including a sensory and motor deficit. However, the mechanisms underlying the motor deficit remain elusive. Here, we show that the genetic ablation of Necdin, whose expression is restricted to post-mitotic neurons in the spinal cord during development, leads to a loss of 31% of specified motoneurons. The increased neuronal loss occurs during the period of naturally-occurring cell death and is not confined to specific pools of motoneurons. To better understand the role of Necdin during the period of programmed cell death of motoneurons we used embryonic spinal cord explants and primary motoneuron cultures from Necdin-deficient mice. Interestingly, while Necdin-deficient motoneurons present the same survival response to neurotrophic factors, we demonstrate that deletion of Necdin leads to an increased susceptibility of motoneurons to neurotrophic factor deprivation. We show that by neutralizing TNFα this increased susceptibility of Necdin-deficient motoneurons to trophic factor deprivation can be reduced to the normal level. We propose that Necdin is implicated through the TNF-receptor 1 pathway in the developmental death of motoneurons.
NECDIN 属于 II 型黑色素瘤相关抗原基因表达基因家族,位于 Prader-Willi 综合征(PWS)关键区域。缺乏 Necdin 的小鼠会出现 PWS 的症状,包括感觉和运动功能障碍。然而,运动功能障碍的机制仍不清楚。在这里,我们表明,在发育过程中,Necdin 的表达仅限于脊髓的有丝分裂后神经元,其遗传缺失会导致特定运动神经元丧失 31%。这种神经元丢失增加发生在自然发生的细胞死亡期间,并不局限于特定的运动神经元池。为了更好地理解 Necdin 在运动神经元程序性细胞死亡期间的作用,我们使用了来自 Necdin 缺陷小鼠的胚胎脊髓外植体和原代运动神经元培养物。有趣的是,虽然 Necdin 缺陷型运动神经元对神经营养因子表现出相同的存活反应,但我们证明 Necdin 的缺失会导致运动神经元对神经营养因子剥夺的敏感性增加。我们表明,通过中和 TNFα,可将 Necdin 缺陷型运动神经元对营养因子剥夺的这种增加的敏感性降低到正常水平。我们提出,Necdin 通过 TNF 受体 1 途径参与运动神经元的发育性死亡。