Nebulin is a large actin-binding protein of the skeletal muscle sarcomere. Multiple isoforms of nebulin are produced from the 183-exon–containing nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy.
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.
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.
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