Mutations causing neurodegenerative tauopathies

Goedert M; Jakes R

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Mutations causing neurodegenerative tauopathies

機譯：引起神經退行性變態的突變

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Tau is the major component of the intracellular filamentous deposits that define a number of neurodegenerative diseases. They include the largely sporadic Alzheimer's disease (AD), progressive supranuclear palsy, corticobasal degeneration, Pick's disease and argyrophilic grain disease, as well as the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). For a long time, it was unclear whether the dysfunction of tau protein follows disease or whether disease follows tau dysfunction. This was resolved when mutations in Tau were found to cause FTDP-17. Currently, 32 different mutations have been identified in over 100 families. About half of the known mutations have their primary effect at the protein level. They reduce the ability of tau protein to interact with microtubules and increase its propensity to assemble into abnormal filaments. The other mutations have their primary effect at the RNA level and perturb the normal ratio of three-repeat to four-repeat tau isoforms. Where studied, this resulted in a relative overproduction of tau protein with four microtubule-binding domains in the brain. Individual Tau mutations give rise to diseases that resemble progressive supranuclear palsy, corticobasal degeneration or Pick's disease. Moreover, the H1 haplotype of Tau has been identified as a significant risk factor for progressive supranuclear palsy and corticobasal degeneration. At a practical level, the new work is leading to the production of experimental animal models that reproduce the essential molecular and cellular features of the human tauopathies, including the formation of abundant filaments made of hyperphosphorylated tau protein and nerve cell degeneration. (C) 2004 Elsevier B.V. All rights reserved.

機譯：Tau是細胞內絲狀沉積物的主要成分，其定義了許多神經退行性疾病。它們包括散發性的阿爾茨海默氏病（AD），進行性核上性麻痹，皮質基底變性，皮克氏病和嗜銀粒病，以及與17號染色??體相關的遺傳性額顳葉癡呆和帕金森癥（FTDP-17）。長期以來，尚不清楚tau蛋白的功能障礙是疾病引起的還是疾病是tau功能障礙引起的。當發現Tau中的突變引起FTDP-17時，此問題得以解決。目前，已在100多個家庭中鑒定出32種不同的突變。大約一半的已知突變在蛋白質水平上具有主要作用。它們降低了tau蛋白與微管相互作用的能力，并增加了其組裝成異常細絲的傾向。其他突變在RNA水平上具有其主要作用，并且會擾亂三重復與四重復tau亞型的正常比例。在研究中，這導致腦中具有四個微管結合結構域的tau蛋白相對過量生產。個別的Tau突變會引起類似于進行性核上性麻痹，皮質基底變性或Pick病的疾病。此外，已將Tau的H1單倍型鑒定為進行性核上性麻痹和皮質基底變性的重要危險因素。從實用的角度來看，這項新工作正在導致產生實驗動物模型，這些動物模型可再現人tauopathies的基本分子和細胞特征，包括形成由高磷酸化tau蛋白制成的豐富細絲和神經細胞變性。（C）2004 Elsevier B.V.保留所有權利。

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《Biochimica et biophysica acta. Molecular basis of disease: BBA》 |2005年第3期|共11頁
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Goedert M; Jakes R;
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正文語種 eng
中圖分類生物工程學（生物技術）;
關鍵詞
tau protein isoform; mutation; tau filament; frontotemporal dementia; parkinsonism; tauopathy; PROGRESSIVE SUPRANUCLEAR PALSY; PAIRED HELICAL FILAMENTS; TAU GENE MUTATION; FAMILIAL FRONTOTEMPORAL DEMENTIA; SPLICING REGULATORY ELEMENT; ARGYROPHILIC GRAIN DISEASE; MULTIPLE SYSTEM TAUOPATHY; TRANSGENIC MICE; EXON 10; ALZHEIMERS-DISEASE;

機譯：tau蛋白同工型;突變;tau細絲;額顳葉癡呆;帕金森病;tau病變;進行性超核麻木;成對的螺旋絲;tau基因突變;家族前顳葉癡呆;剪接調控元件;多發性粒細胞性;多親性;系統性阿爾茨海默氏病;

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1. Mutations causing neurodegenerative tauopathies [J] . Goedert M, Jakes R Biochimica et biophysica acta. Molecular basis of disease: BBA . 2005,第2a3期

機譯：引起神經退行性變態的突變
2. Neurodegenerative disorder FTDP-17-related tau intron 10 +16C→T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice [J] . UmedaT., YamashitaT., KimuraT., American Journal of Pathology: Official Publication of the American Association of Pathologists . 2013,第1期

機譯：神經變性障礙FTDP-17相關的TAU Intron 10 + 16C→T突變增加Tau Exon 10剪接并導致轉基因小鼠的部落病
3. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 [J] . Alicia B. Byrne, Peer Arts, Steven W. Polyak, NPJ genomic medicine. . 2019,第1期

機譯：SLC5A6中雙胞胎突變引起的神經變性障礙鑒定和靶向管理
4. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

機譯：具有內含性10 + 14剪接部位Tau基因突變模擬佩里綜合征的脅迫
5. A Multi-Scale Computational Approach to Understand the Calcium Dynamics and Arrhythmogenic Disorders Caused by Mutations in RYR2/CASQ2 Expressing Genes [D] . Paudel, Roshan. 2020

機譯：一種多規模的計算方法，了解Ryr2 / Casq2在表達基因中突變引起的鈣動力學和心律發生障礙
6. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 [O] . Alicia B. Byrne, Peer Arts, Steven W. Polyak, 2019

機譯：SLC5A6中雙等位基因突變引起的神經退行性疾病的鑒定和靶向治療
7. Mutations causing neurodegenerative tauopathies [O] . Goedert Michel, Jakes Ross 2005

機譯：引起神經退行性變態的突變

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Mutations causing neurodegenerative tauopathies

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