肌球蛋白重链基因在人类遗传性疾病中的研究进展

发布时间：2018-03-12 23:15

本文选题：MYH基因家族　切入点：肌球蛋白重链　出处：《遗传》2017年10期 　论文类型：期刊论文

【摘要】：肌球蛋白超家族通过水解ATP,将化学能转化为机械能,在细胞迁移、肌肉收缩等多种生理活动中发挥重要的作用。其中,肌球蛋白Ⅱ类分子是肌细胞和非肌细胞中肌丝的重要组成成分。一个完整的肌球蛋白Ⅱ类分子是由2条肌球蛋白重链(myosin heavy chain,My HC)和2对不同的轻链组成的六聚体。在人体中,存在多种My HC亚型,分别由不同的MYH基因家族成员编码。迄今为止,人们已经发现MYH基因家族中多个成员的不同突变与人类遗传性疾病相关。其中,MYH2突变可以导致一类以眼肌麻痹为主要特征的骨骼肌疾病;MYH3和MYH8突变可以引起远端关节挛缩综合征;MYH7突变即可以引起骨骼肌疾病包括肌球蛋白沉积性肌病和Laing远端肌病,也与肥厚性心肌病的发生密切相关;MYH9突变可以导致一类以巨大血小板、血小板减少和中性粒细胞包涵体为特征的MYH9相关性疾病。本文简要介绍MYH基因的表达特点,着重阐述MYH基因与人类遗传性疾病之间的相关性及研究进展。
[Abstract]:Myosin superfamily by hydrolysis ATP, convert chemical energy into mechanical energy, in cell migration, play an important role in muscle contraction and other physiological activities. Among them, MHC class II molecules is an important component of muscle fiber muscle cells and non muscle cells. A complete myosin II molecule is composed of 2 myosin heavy chain (myosin heavy chain, My HC) six dimers and 2 components of different light chains. In humans, there are a variety of My HC subtype, respectively, by members of MYH gene family encoding different. So far, it has been found that a number of members of the MYH gene family in different human genetic mutation related diseases. Among them, MYH2 mutations can lead to a kind of disease of the skeletal muscle with ophthalmoplegia as the main feature; MYH3 and MYH8 mutations can cause distal arthrogryposis syndrome; MYH7 mutation that can cause diseases including skeletal muscle myosin Protein storage myopathy and Laing distal myopathy with hypertrophic cardiomyopathy is closely related to the occurrence of; MYH9 mutations can lead to a kind of giant platelets, thrombocytopenia and inclusions in neutrophils MYH9 related diseases characterized by special. This article briefly introduces the MYH gene expression point, focuses on the relationship and research progress of MYH gene and human genetic diseases.

【作者单位】：上海交通大学医学院医学遗传学实验室;
【基金】：国家自然科学基金项目(编号:31571295)资助~~
【分类号】：R596

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