Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.
Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.
复制标题
微卫星扩增疾病中 RNA 代谢失调。
DOI：
10.1007/978-3-319-89689-2_8
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发表时间：
2018
影响因子：
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通讯作者：
Kalsotra,Auinash
中科院分区：
文献类型：
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作者：
Misra,Chaitali;Lin,Feikai;Kalsotra,Auinash
RNA代谢影响mRNA生命周期的不同步骤，包括剪接、聚腺苷化、核细胞质输出、翻译和衰变。越来越多的证据表明，这些步骤中的任何一个缺陷都会导致人类患上毁灭性疾病。本章回顾了在肌强张性营养不良症（一种三核苷酸重复扩增病）中，由于RNA结合蛋白的失调，各种RNA代谢机制被破坏。我们还比较了肌强直性营养不良与其他微卫星扩张障碍，并描述了这些机制通常如何对疾病病理产生直接或间接影响。
RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy—a trinucleotide repeat expansion disease—due to dysregulation of RNA-Binding Proteins. We also compare Myotonic Dystrophy to other microsatellite expansion disorders and describe how some of these mechanisms commonly exert direct versus indirect effects toward disease pathologies.