Lane S C, Jolly R D, Schmechel D E, Alroy J, Boustany R M
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
J Neurochem. 1996 Aug;67(2):677-83. doi: 10.1046/j.1471-4159.1996.67020677.x.
Batten's disease is a genetic neurodegenerative disease of childhood. Its hallmarks are retinitis pigmentosa and neuronal degeneration. As some types of photoreceptor death in mice are mediated by apoptosis, we investigated whether apoptosis is responsible for retinal and neuronal degeneration in the late infantile and juvenile forms of Batten's disease. Using the terminal dUDP nick end-labeling (TUNEL) staining method, we detected apoptotic neuronal cells in brain from patients and a canine model and in brain and retina from an ovine model for Batten's disease. We confirmed apoptosis by flow cytometry, electron microscopy, and DNA laddering. This is the first inherited neurodegenerative disease involving brain and retina in which apoptosis has been established as the mechanism of neuronal and photoreceptor cell death in both humans and animal models.
巴滕病是一种儿童期遗传性神经退行性疾病。其特征是色素性视网膜炎和神经元变性。由于小鼠中某些类型的光感受器死亡是由凋亡介导的，我们研究了凋亡是否导致晚期婴儿型和青少年型巴滕病的视网膜和神经元变性。使用末端脱氧尿苷酸缺口末端标记（TUNEL）染色方法，我们在患者和犬类模型的大脑以及巴滕病绵羊模型的大脑和视网膜中检测到凋亡的神经元细胞。我们通过流式细胞术、电子显微镜和DNA梯状条带分析证实了凋亡。这是第一种涉及大脑和视网膜的遗传性神经退行性疾病，其中凋亡已被确立为人类和动物模型中神经元和光感受器细胞死亡的机制。
