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人类微管相关蛋白tau基因(MAPT)突变体P301L和P301T中不同的tau蛋白细丝折叠结构

Distinct tau filament folds in human MAPT mutants P301L and P301T.

作者信息

Schweighauser Manuel, Shi Yang, Murzin Alexey G, Garringer Holly J, Vidal Ruben, Murrell Jill R, Erro M Elena, Seelaar Harro, Ferrer Isidro, van Swieten John C, Ghetti Bernardino, Scheres Sjors H W, Goedert Michel

机构信息

Medical Research Council (MRC) Laboratory of Molecular Biology, Cambridge, UK.

Department of Pathology of the First Affiliated Hospital and School of Brain Science, Zhejiang University, Hangzhou, China.

出版信息

Nat Struct Mol Biol. 2025 May 29. doi: 10.1038/s41594-025-01575-9.

Abstract

Mutations in MAPT, the tau gene, give rise to frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), with abundant filamentous tau inclusions in brain cells. Mutations that encode missense variants of residue P301 are the most common and result in the formation of filamentous inclusions made of mutant four-repeat tau. Here we report the cryo-electron microscopy structures of tau filaments from five individuals belonging to three different families with mutation P301L and from one individual from a family with mutation P301T. A distinct three-lobed tau fold resembling the two-layered fold of Pick's disease was present in the individuals with P301L tau. Two different tau folds were found in the individual with mutation P301T, the less abundant of which was a variant of the three-lobed fold. The major P301T tau fold was V-shaped, with partial similarity to the four-layered tau folds of corticobasal degeneration and argyrophilic grain disease.

摘要

微管相关蛋白tau基因(MAPT)的突变会引发与17号染色体相关的额颞叶痴呆和帕金森综合征(FTDP - 17),患者脑细胞中会出现大量丝状tau包涵体。编码第301位氨基酸错义变体的突变最为常见,会导致由突变的四重复tau构成的丝状包涵体形成。在此,我们报告了来自三个不同家族携带P301L突变的五名个体以及来自一个携带P301T突变家族的一名个体的tau细丝的冷冻电子显微镜结构。携带P301L tau的个体中存在一种独特的三叶草状tau折叠,类似于匹克氏病的双层折叠。在携带P301T突变的个体中发现了两种不同的tau折叠,其中较少见的是三叶草状折叠的变体。主要的P301T tau折叠呈V形,与皮质基底节变性和嗜银颗粒病的四层tau折叠有部分相似性。

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