Huntington's disease: a generalized membrane defect.
Huntington's disease: a generalized membrane defect.
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亨廷顿病：一种全身性膜缺陷。
DOI：
10.1016/0024-3205(81)90689-5
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发表时间：
1981
期刊：
影响因子：
6.1
通讯作者：
W. Markesbery
中科院分区：
文献类型：
--
作者：
D. Butterfield;W. Markesbery
亨廷顿氏病是一种作为常染色体显性遗传性状遗传的进行性退行性神经系统疾病，其导致基底神经节和大脑其他区域中的选择性神经元损失。基于我们实验室采用电子自旋共振、分析、酶、生物化学和形态学技术研究完全在中枢神经系统之外的红细胞膜的研究，我们提出亨廷顿病与涉及蛋白质的广泛性膜缺陷相关，并且可能表现在膜外表面。其他工作者随后获得了支持这一假设的关于亨廷顿病的神经组织的生物物理、生物化学和形态学结果，包括红细胞、淋巴细胞、血小板和培养的皮肤成纤维细胞。本文将总结和评估目前的知识参与的膜缺陷的病因和发病机制的亨廷顿病。
Huntington's disease, a progressively degenerative neurological disorder inherited as an autosomal dominant trait, results in selective neuronal loss in the basal ganglia and other areas of the brain. Based on research in our laboratory employing electron spin resonance, analytical, enzymatic, biochemical and morphological techniques to study erythrocyte membranes, which are completely outside the central nervous system, we have suggested that Huntington's disease is associated with a generalized membrane defect involving a protein and probably manifested at the external membrane surface. Other workers have subsequently obtained biophysical, biochemical, and morphological results on extraneural tissue in Huntington's disease including erythrocytes, lymphocytes, platelets,and cultured skin fibroblasts that supports this hypothesis. This review will summarize and evaluate the current knowledge of the involvement of a membrane defect in the etiology and pathogenesis of Huntington's disease.