Expression of multiple nebulin isoforms in human skeletal muscle and brain

被引:24
作者
Laitila, Jenni [1 ]
Hanif, Mubashir [2 ,3 ]
Paetau, Anders [4 ]
Hujanen, Sari [1 ]
Keto, Joni [5 ]
Somervuo, Panu [5 ]
Huovinen, Sanna [6 ]
Udd, Bjarne [7 ]
Wallgren-Pettersson, Carina [2 ,3 ]
Auvinen, Petri [5 ]
Hackman, Peter [2 ,3 ]
Pelin, Katarina [1 ]
机构
[1] Univ Helsinki, Div Genet, Dept Biosci, FI-00014 Helsinki, Finland
[2] Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland
[3] Univ Helsinki, Haartman Inst, Dept Med Genet, FI-00014 Helsinki, Finland
[4] Univ Helsinki, HUSLAB, Dept Pathol, FI-00014 Helsinki, Finland
[5] Univ Helsinki, Inst Biotechnol, FI-00014 Helsinki, Finland
[6] Univ Tampere, Dept Pathol, Fimlab Labs, FIN-33101 Tampere, Finland
[7] Tampere Univ Hosp, Dept Neurol, Tampere, Finland
基金
芬兰科学院;
关键词
immunohistochemistry; microarray; nebulin; neuron; skeletal muscle; N-WASP; NEMALINE MYOPATHY; ARP2/3; COMPLEX; MOUSE NEBULIN; Z-DISC; MUTATIONS; GENE; IDENTIFICATION; PROTEIN; ACTIN;
D O I
10.1002/mus.23380
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Introduction: Nebulin is a large actin-binding protein of the skeletal muscle sarcomere. Multiple isoforms of nebulin are produced from the 183-exoncontaining nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy. Methods: Nebulin mRNA expression was assessed by microarrays and RT-PCR in 21 human leg muscle and 2 brain samples. Protein expression was assessed by immunohistochemistry in 5 regions of 1 brain sample. Results: Nebulin isoform diversity is as high in brain as in skeletal muscle. Isoforms with more than 22 super repeats seem to be more common than previously anticipated. Immunohistochemistry showed nebulin expression predominantly in the cytoplasm of pyramidal neurons but also in the cytoplasm of mainly subcortical endothelial cells. Conclusions: Nebulin, as in skeletal muscle, may have a role as an actin filament stabilizer or length regulator in neurons of the human brain, although patients with NEB mutations usually have normal cognition. Muscle Nerve, 2012
引用
收藏
页码:730 / 737
页数:8
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