Michele Daniel E, Barresi Rita, Kanagawa Motoi, Saito Fumiaki, Cohn Ronald D, Satz Jakob S, Dollar James, Nishino Ichizo, Kelley Richard I, Somer Hannu, Straub Volker, Mathews Katherine D, Moore Steven A, Campbell Kevin P
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242-1101, USA.
Nature. 2002 Jul 25;418(6896):417-22. doi: 10.1038/nature00837.
Muscle eye brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with associated, similar brain malformations. The FCMD gene, fukutin, shares some homology with fringe-like glycosyltransferases, and the MEB gene, POMGnT1, seems to be a new glycosyltransferase. Here we show, in both MEB and FCMD patients, that alpha-dystroglycan is expressed at the muscle membrane, but similar hypoglycosylation in the diseases directly abolishes binding activity of dystroglycan for the ligands laminin, neurexin and agrin. We show that this post-translational biochemical and functional disruption of alpha-dystroglycan is recapitulated in the muscle and central nervous system of mutant myodystrophy (myd) mice. We demonstrate that myd mice have abnormal neuronal migration in cerebral cortex, cerebellum and hippocampus, and show disruption of the basal lamina. In addition, myd mice reveal that dystroglycan targets proteins to functional sites in brain through its interactions with extracellular matrix proteins. These results suggest that at least three distinct mammalian genes function within a convergent post-translational processing pathway during the biosynthesis of dystroglycan, and that abnormal dystroglycan-ligand interactions underlie the pathogenic mechanism of muscular dystrophy with brain abnormalities.
肌肉-眼-脑疾病(MEB)和福山型先天性肌营养不良症(FCMD)是伴有相似脑畸形的先天性肌营养不良症。FCMD基因福库汀与边缘样糖基转移酶有一些同源性,而MEB基因POMGnT1似乎是一种新的糖基转移酶。在此我们发现,在MEB和FCMD患者中,α-抗肌萎缩蛋白聚糖在肌膜上表达,但这两种疾病中相似的低聚糖基化直接消除了抗肌萎缩蛋白聚糖与配体层粘连蛋白、接触蛋白相关分子和集聚蛋白的结合活性。我们发现,α-抗肌萎缩蛋白聚糖的这种翻译后生化和功能破坏在突变性肌营养不良(myd)小鼠的肌肉和中枢神经系统中也有体现。我们证明,myd小鼠在大脑皮质、小脑和海马体中存在异常的神经元迁移,并显示基底膜遭到破坏。此外,myd小鼠表明,抗肌萎缩蛋白聚糖通过与细胞外基质蛋白相互作用将蛋白质靶向大脑中的功能位点。这些结果表明,至少有三个不同的哺乳动物基因在抗肌萎缩蛋白聚糖生物合成过程中的一个共同翻译后加工途径中发挥作用,并且抗肌萎缩蛋白聚糖-配体相互作用异常是伴有脑异常的肌营养不良症致病机制的基础。