發(fā)布時(shí)間：2018-03-06 22:08

  本文選題：Corf　切入點(diǎn)：GGGGCC重復(fù)　出處：《武漢大學(xué)學(xué)報(bào)(理學(xué)版)》2016年04期 　論文類型：期刊論文

【摘要】：C9orf72突變是導(dǎo)致肌萎縮側(cè)索硬化癥和額顳葉癡呆最主要的突變形式,該突變由GGGGCC長(zhǎng)重復(fù)序列插入C9orf72基因的內(nèi)含子中造成.該突變有3種致病機(jī)制:由C9orf72蛋白表達(dá)量降低造成的功能缺失、長(zhǎng)重復(fù)序列RNA造成的細(xì)胞毒性、長(zhǎng)重復(fù)RNA轉(zhuǎn)錄產(chǎn)物造成的細(xì)胞毒性.本文就從3個(gè)方面綜合分析了該突變的分子學(xué)致病機(jī)制,從RNA和蛋白質(zhì)代謝以及核仁應(yīng)激三方面總結(jié)了3種致病機(jī)制之間的聯(lián)系,并對(duì)該突變致病機(jī)制研究遇到的困難和未來(lái)發(fā)展方向進(jìn)行了總結(jié)和預(yù)測(cè).
[Abstract]:The C9orf72 mutation is the main mutation form leading to amyotrophic lateral sclerosis and frontotemporal dementia. The mutation is caused by the insertion of the GGGGCC long repeat into the intron of the C9orf72 gene. The mutation has three pathogenetic mechanisms: the loss of function caused by the reduced expression of the C9orf72 protein, and the cytotoxicity caused by the long repeat RNA. In this paper, the molecular pathogenetic mechanism of this mutation was analyzed from three aspects, and the relationship between RNA and protein metabolism and nucleolar stress was summarized. The difficulties encountered in the study and the future development direction of the mutation were summarized and predicted.
【作者單位】： 武漢大學(xué)藥學(xué)院/組合生物合成與新藥發(fā)現(xiàn)教育部重點(diǎn)實(shí)驗(yàn)室;
【基金】：湖北省醫(yī)學(xué)領(lǐng)軍人才培養(yǎng)工程
【分類號(hào)】：R741

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