由NM诱导的成纤维细胞、Sol 8成肌细胞和肌管中α-骨骼肌肌动蛋白突变体所引发的表型。
Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.
作者信息
Vandamme Drieke, Lambert Ellen, Waterschoot Davy, Tondeleir Davina, Vandekerckhove Joël, Machesky Laura M, Constantin Bruno, Rommelaere Heidi, Ampe Christophe
机构信息
Department of Biochemistry, Faculty of Medicine and Health Sciences, Ghent University, A, Baertsoenkaai 3, Gent, Belgium.
出版信息
BMC Res Notes. 2009 Mar 10;2:40. doi: 10.1186/1756-0500-2-40.
BACKGROUND
Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with alpha-skeletal muscle actin mutations. We previously showed that actin mutations can cause four different biochemical phenotypes and that expression of NM associated actin mutants in fibroblasts, myoblasts and myotubes induces a range of cellular defects.
FINDINGS
We conducted the same biochemical experiments for twelve new actin mutants associated with nemaline myopathy. We observed folding and polymerization defects. Immunostainings of these and eight other mutants in transfected cells revealed typical cellular defects such as nemaline rods or aggregates, decreased incorporation in F-actin structures, membrane blebbing, the formation of thickened actin fibres and cell membrane blebbing in myotubes.
CONCLUSION
Our results confirm that NM associated alpha-actin mutations induce a range of defects at the biochemical level as well as in cultured fibroblasts and muscle cells.
背景
杆状体肌病是一种神经肌肉疾病，其特征是患者肌肉中存在杆状体。20%的病例与α-骨骼肌肌动蛋白突变有关。我们之前表明，肌动蛋白突变可导致四种不同的生化表型，并且在成纤维细胞、成肌细胞和肌管中表达与杆状体肌病相关的肌动蛋白突变体可诱导一系列细胞缺陷。
研究结果
我们对与杆状体肌病相关的12种新的肌动蛋白突变体进行了相同的生化实验。我们观察到折叠和聚合缺陷。对这些突变体以及转染细胞中的其他8种突变体进行免疫染色，揭示了典型的细胞缺陷，如杆状体或聚集体、F-肌动蛋白结构中掺入减少、膜泡化、肌管中形成增厚的肌动蛋白纤维以及细胞膜泡化。
结论
我们的结果证实，与杆状体肌病相关的α-肌动蛋白突变在生化水平以及培养的成纤维细胞和肌肉细胞中诱导了一系列缺陷。
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