Mariol M C, Ségalat L
CGMC, CNRS-UMR 5534, Université Lyon1, 43 bld du 11 Novembre, 69622 Villeurbanne Cedex, France.
Curr Biol. 2001 Oct 30;11(21):1691-4. doi: 10.1016/s0960-9822(01)00528-0.
Duchenne muscular dystrophy (DMD) is a progressive degenerative muscular disease that is due to mutations in the dystrophin gene. Neither the function of dystrophin nor the physiopathology of the disease have been clearly established yet. Several groups have reported elevated calcium concentrations in the mdx mouse model of DMD, but the effect of calcium levels on the progression of the disease continues to be a matter of debate. Here, we show that, in Caenorhabditis elegans, a gain-of-function mutation in the egl-19 calcium channel gene dramatically increases muscle degeneration in dystrophin mutants. Conversely, RNAi-mediated inhibition of egl-19 function reduces muscle degeneration by half. Therefore, our results demonstrate that calcium channel activity is a critical factor in the progression of dystrophin-dependent muscle degeneration.
杜兴氏肌营养不良症(DMD)是一种进行性退行性肌肉疾病,由肌营养不良蛋白基因的突变引起。目前,肌营养不良蛋白的功能和该疾病的生理病理学都尚未明确。有几个研究小组报告称,在DMD的mdx小鼠模型中钙浓度升高,但钙水平对疾病进展的影响仍存在争议。在此,我们表明,在秀丽隐杆线虫中,egl-19钙通道基因的功能获得性突变会显著增加肌营养不良蛋白突变体中的肌肉退化。相反,RNA干扰介导的egl-19功能抑制可使肌肉退化减少一半。因此,我们的结果表明,钙通道活性是依赖肌营养不良蛋白的肌肉退化进展中的关键因素。