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Mini-Review Article

普瑞德-威利综合征:分子机制和表观遗传疗法

卷 20, 期 1, 2020

页: [36 - 43] 页: 8

弟呕挨: 10.2174/1566523220666200424085336

价格: $65

摘要

普瑞德威利综合征(PWS)是一种烙印性神经发育疾病，其特征是认知障碍、发育迟缓、嗜食、肥胖和睡眠异常。其原因是15号染色体PWS印迹中心父系活性基因表达不足(15q11.2-q13)。由于印迹基因调控，母系染色体15q11-q13中的相同基因结构完整，但由于表观遗传机制，在转录水平上受到抑制。PWS特有的分子缺陷为探索表观遗传疗法以重新激活从母体染色体遗传的被抑制的PWS基因的表达提供了机会。本文综述了近年来PWS分子研究的主要进展，并对CRISPR/Cas9介导的表观基因组编辑技术在PWS表观遗传学治疗中的发展现状和前景进行了展望。本文综述了12项关于PWS的分子机制或表观遗传学治疗的研究。虽然我们对PWS的分子基础的理解已经发生了根本的改变，但在针对PWS潜在的遗传缺陷的表观遗传学治疗方面也取得了一些进展。

关键词: 普瑞德威利综合征

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