Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?
Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?
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DOI：
10.1016/j.nmd.2011.02.002
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发表时间：
2011-04-01
影响因子：
2.8
通讯作者：
Fitzsimons, Robin B.
中科院分区：
文献类型：
--
作者：
Fitzsimons, Robin B.
伴随FSHD的外周视网膜血管异常在形态学和临床上属于一类由控制视网膜血管生成的"Wnt"信号传导异常引起的发育性"视网膜血管减退"。Wnt信号传导也是肌发生的基础，本文将肌细胞信号传导和转录因子表达的现代概念与经典的早期眼科和肌胚胎学文献中的数据相结合。总之，他们支持一个假设，即Wnt信号传导异常，激活成肌细胞和卫星细胞中的生肌程序和转录因子，导致FSHD中有缺陷的肌肉再生。不同的FSHD肌肉（特别是面部肌肉，从第二鳃弓）的选择性脆弱性可能反映了转录因子redundances.This假说的模式FSHD研究，通过研究转录因子在正常人体肌肉的图案，和自体细胞移植的影响。(C)2011 Elsevier B.V.保留所有权利。
The peripheral retinal vascular abnormality which accompanies FSHD belongs morphologically and clinically to a class of developmental 'retinal hypovasculopathies' caused by abnormalities of 'Wnt' signalling, which controls retinal angiogenesis. Wnt signalling is also fundamental to myogenesis.This paper integrates modern concepts of myogenic cell signalling and of transcription factor expression and control with data from the classic early ophthalmic and myology embryology literature. Together, they support an hypothesis that abnormalities of Wnt signalling, which activates myogenic programs and transcription factors in myoblasts and satellite cells, leads to defective muscle regeneration in FSHD. The selective vulnerability of different FSHD muscles (notably facial muscle, from the second branchial arch) might reflect patterns of transcription factor redundancies.This hypothesis has implications for FSHD research through study of transcription factors patterning in normal human muscles, and for autologous cell transplantation. (C) 2011 Elsevier B.V. All rights reserved.