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DOCK3 是骨骼肌的一种剂量敏感调节因子,也是杜氏肌营养不良症相关病理的调节因子。

DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.

机构信息

Division of Neurology, Department of Pediatrics, The University of Alabama at Birmingham and Children's of Alabama, Birmingham, AL 35294, USA.

UAB Center for Exercise Medicine, Birmingham, AL 35294, USA.

出版信息

Hum Mol Genet. 2020 Oct 10;29(17):2855-2871. doi: 10.1093/hmg/ddaa173.

Abstract

DOCK3 is a member of the DOCK family of guanine nucleotide exchange factors that regulate cell migration, fusion and viability. Previously, we identified a dysregulated miR-486/DOCK3 signaling cascade in dystrophin-deficient muscle, which resulted in the overexpression of DOCK3; however, little is known about the role of DOCK3 in muscle. Here, we characterize the functional role of DOCK3 in normal and dystrophic skeletal muscle. Utilizing Dock3 global knockout (Dock3 KO) mice, we found that the haploinsufficiency of Dock3 in Duchenne muscular dystrophy mice improved dystrophic muscle pathologies; however, complete loss of Dock3 worsened muscle function. Adult Dock3 KO mice have impaired muscle function and Dock3 KO myoblasts are defective for myogenic differentiation. Transcriptomic analyses of Dock3 KO muscles reveal a decrease in myogenic factors and pathways involved in muscle differentiation. These studies identify DOCK3 as a novel modulator of muscle health and may yield therapeutic targets for treating dystrophic muscle symptoms.

摘要

DOCK3 是 Dock 家族鸟嘌呤核苷酸交换因子的成员,可调节细胞迁移、融合和存活。此前,我们在肌营养不良症患者的肌肉中发现了失调的 miR-486/DOCK3 信号级联,导致 DOCK3 的过度表达;然而,对于 DOCK3 在肌肉中的作用知之甚少。在这里,我们描述了 DOCK3 在正常和萎缩性骨骼肌中的功能作用。利用 Dock3 全局敲除(Dock3 KO)小鼠,我们发现 Duchenne 肌营养不良症小鼠中 Dock3 的单倍不足改善了萎缩性肌肉病变;然而,Dock3 的完全缺失会使肌肉功能恶化。成年 Dock3 KO 小鼠的肌肉功能受损,Dock3 KO 成肌细胞在成肌分化方面存在缺陷。对 Dock3 KO 肌肉的转录组分析显示,参与肌肉分化的肌生成因子和途径减少。这些研究将 DOCK3 确定为肌肉健康的新调节剂,并可能为治疗萎缩性肌肉症状提供治疗靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e9/7566544/f17f9041d7f9/ddaa173ga.jpg

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