Abnormal protein aggregation is a common characteristic of many neurodegenerative diseases of the brain. Filamentous deposits made of the microtubule-associated protein tau constitute a major defining characteristic of several neurodegenerative diseases known as tauopathies. The role of tau in neurodegeneration has been clarified by the identification of genetic mutations in the tau gene in cases with familial frontotemporal dementia and parkinsonism linked to chromosome 17. Furthermore, some sporadic tauopathies are associated with tau gene polymorphisms. Although it is still debated how tau gene mutations lead to neuronal death, it is clear that different mutations lead to tau pathologies with characteristics similar to those found in sporadic tauopathies. These findings have definitely shown that in tauopathies tau aggregation is directly associated with development of neurodegeneration and neuronal death.

译文

蛋白质聚集异常是许多大脑神经退行性疾病的共同特征。由微管相关蛋白tau制成的丝状沉积物构成了几种神经退行性疾病 (称为tau病) 的主要特征。通过鉴定与17号染色体相关的家族性额颞叶痴呆和帕金森病的tau基因的遗传突变,可以阐明tau在神经变性中的作用。此外,一些零星的tau病与tau基因多态性有关。尽管仍在争论tau基因突变如何导致神经元死亡,但很明显,不同的突变会导致tau病变,其特征与散发性tau病变相似。这些发现已经明确表明,在tauopathies中,tau聚集与神经变性和神经元死亡的发展直接相关。

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