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唐氏综合征患者舌肌中元素浓度升高及神经肌肉接头异常。

Elevated concentrations of elements and abnormalities of neuromuscular junctions in tongue muscles of Down's syndrome.

作者信息

Yarom R, Sherman Y, Sagher U, Peled I J, Wexler M R, Gorodetsky R

出版信息

J Neurol Sci. 1987 Jul;79(3):315-26. doi: 10.1016/0022-510x(87)90238-3.

DOI:10.1016/0022-510x(87)90238-3
PMID:2956367
Abstract

X-ray spectrometry was used to measure the concentrations of calcium, iron, copper and zinc in tongue muscles from patients with Down's syndrome (DS) undergoing partial glossectomy. Similar measurements on samples from autopsies served as controls. Electron microscopy was used to examine neuromuscular junctions. The calcium and copper were significantly elevated and correlated in DS while the iron and zinc showed little change. The copper increase is probably connected with the known high level of Zn-Cu superoxide dismutase (SOD), coded for by chromosome 21. (In DS there is a trisomy 21). The excess of SOD may interfere with free radicals needed for excitation-contraction coupling and may be instrumental in damaging junctional membranes. The high calcium may result from such membrane damage. It is suggested that neuromuscular junction pathology, either genetic or free radical induced, may cause the tongue weakness in DS.

摘要

采用X射线光谱法测量了接受部分舌切除术的唐氏综合征(DS)患者舌肌中钙、铁、铜和锌的浓度。对尸检样本进行的类似测量作为对照。使用电子显微镜检查神经肌肉接头。DS患者的钙和铜显著升高且呈正相关,而铁和锌变化不大。铜含量的增加可能与已知的由21号染色体编码的高水平锌铜超氧化物歧化酶(SOD)有关。(DS患者存在21号染色体三体)。过量的SOD可能会干扰兴奋-收缩偶联所需的自由基,并可能导致连接膜受损。高钙可能是这种膜损伤的结果。有人认为,无论是遗传因素还是自由基诱导的神经肌肉接头病变,都可能导致DS患者的舌肌无力。

相似文献

1
Elevated concentrations of elements and abnormalities of neuromuscular junctions in tongue muscles of Down's syndrome.唐氏综合征患者舌肌中元素浓度升高及神经肌肉接头异常。
J Neurol Sci. 1987 Jul;79(3):315-26. doi: 10.1016/0022-510x(87)90238-3.
2
Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: a model for tongue pathology in Down's syndrome.
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Down's syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase.唐氏综合征:人类铜锌超氧化物歧化酶水平升高的转基因小鼠舌部神经肌肉接头异常。
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Cell damage by excess CuZnSOD and Down's syndrome.过量铜锌超氧化物歧化酶导致的细胞损伤与唐氏综合征
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Myofibers in tongues of Down's syndrome.唐氏综合征患者舌部的肌纤维。
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Down's syndrome: morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice.
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Down syndrome clinical symptoms are manifested in transfected cells and transgenic mice overexpressing the human Cu/Zn-superoxide dismutase gene.唐氏综合征的临床症状在转染细胞和过表达人铜/锌超氧化物歧化酶基因的转基因小鼠中有所体现。
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