Huntington's disease: a synaptopathy?
Huntington's disease: a synaptopathy?
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DOI：
10.1016/j.molmed.2003.08.006
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发表时间：
2003-10-01
影响因子：
13.6
通讯作者：
Brundin, P
中科院分区：
文献类型：
--
作者：
Li, JY;Plomann, M;Brundin, P
亨廷顿氏病（HD）是由亨廷顿蛋白中的多聚谷氨酰胺扩增引起的。在其终末期，HD的特征在于新皮层和纹状体中广泛的神经元死亡。传统上，这种神经元死亡被认为是该疾病的大多数症状的基础。然而，越来越多的证据表明，细胞功能障碍在HD的发病机制中很重要。我们认为，特定的胞吐和胞吞机制的损害有助于HD的发展。我们还认为，异常的突触传递是HD早期症状的基础，并可能导致疾病后期细胞死亡的触发。
Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin. In its terminal stage, HD is characterized by widespread neuronal death in the neocortex and the striatum. Classically, this neuronal death has been thought to underlie most of the symptoms of the disease. Accumulating evidence suggests, however, that cellular dysfunction is important in the pathogenesis of HD. We propose that specific impairment of the exocytosis and endocytosis machinery contributes to the development of HD. We also suggest that abnormal synaptic transmission underlies the early symptoms of HD and can contribute to the triggering of cell death in later stages of the disease.