Liquid-Liquid Phase Separation in Disease.

IF 8.7 1区生物学 Q1 GENETICS & HEREDITY

Annual review of genetics Pub Date : 2019-12-03 DOI:10.1146/annurev-genet-112618-043527

S. Alberti, D. Dormann

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引用次数: 446

Abstract

We have made rapid progress in recent years in identifying the genetic causes of many human diseases. However, despite this recent progress, our mechanistic understanding of these diseases is often incomplete. This is a problem because it limits our ability to develop effective disease treatments. To overcome this limitation, we need new concepts to describe and comprehend the complex mechanisms underlying human diseases. Condensate formation by phase separation emerges as a new principle to explain the organization of living cells. In this review, we present emerging evidence that aberrant forms of condensates are associated with many human diseases, including cancer, neurodegeneration, and infectious diseases. We examine disease mechanisms driven by aberrant condensates, and we point out opportunities for therapeutic interventions. We conclude that phase separation provides a useful new framework to understand and fight some of the most severe human diseases. Expected final online publication date for the Annual Review of Genetics, Volume 53 is November 23, 2019. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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疾病中的液-液相分离。

近年来，我们在确定许多人类疾病的遗传原因方面取得了快速进展。然而，尽管最近取得了这些进展，但我们对这些疾病的机制理解往往是不完整的。这是一个问题，因为它限制了我们开发有效疾病治疗方法的能力。为了克服这一限制，我们需要新的概念来描述和理解人类疾病的复杂机制。通过相分离形成冷凝物是解释活细胞组织的一个新原理。在这篇综述中，我们提出了新的证据，表明异常形式的冷凝物与许多人类疾病有关，包括癌症、神经退行性变和传染病。我们研究了异常凝聚物驱动的疾病机制，并指出了治疗干预的机会。我们得出的结论是，相分离为理解和对抗一些最严重的人类疾病提供了一个有用的新框架。《遗传学年度评论》第53卷预计最终在线出版日期为2019年11月23日。请参阅http://www.annualreviews.org/page/journal/pubdates用于修订估算。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annual review of genetics 生物-遗传学

CiteScore

18.30

自引率

0.90%

发文量

期刊介绍： The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.