Avraham K B, Schickler M, Sapoznikov D, Yarom R, Groner Y
Department of Virology, Weizmann Institute of Science, Rehovot, Israel.
Cell. 1988 Sep 9;54(6):823-9. doi: 10.1016/s0092-8674(88)91153-1.
To investigate the possible involvement of Cu/Zn-superoxide dismutase (CuZnSOD) gene dosage in the neuropathological symptoms of Down's syndrome, we analyzed the tongue muscle of transgenic mice that express elevated levels of human CuZnSOD. The tongue neuromuscular junctions (NMJ) in the transgenic animals exhibited significant pathological changes, namely, withdrawal and destruction of some terminal axons and the development of multiple small terminals. The ratio of terminal axon area to postsynaptic membrane decreased, and secondary folds were often complex and hyperplastic. The morphological changes in the transgenic NMJ were similar to those previously seen in muscles of aging mice and rats as well as in tongue muscle of patients with Down's syndrome. The findings suggest that CuZnSOD gene dosage is involved in the pathological abnormalities of tongue NMJ observed in Down's syndrome patients.
为了研究铜锌超氧化物歧化酶（CuZnSOD）基因剂量可能与唐氏综合征神经病理症状有关，我们分析了表达高水平人CuZnSOD的转基因小鼠的舌肌。转基因动物的舌神经肌肉接头（NMJ）表现出显著的病理变化，即一些终末轴突退缩和破坏以及多个小终末的形成。终末轴突面积与突触后膜面积的比值降低，继发性皱襞常复杂且增生。转基因NMJ的形态变化与先前在衰老小鼠和大鼠肌肉以及唐氏综合征患者舌肌中观察到的变化相似。这些发现表明，CuZnSOD基因剂量与唐氏综合征患者舌NMJ的病理异常有关。
