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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Late onset of motor neurons in mice overexpressing wild-type peripherin.

Peripherin, a type III intermediate filament (IF) protein, upregulated by injury and inflammatory cytokines, is a component of IF inclusion bodies associated with degenerating motor neurons in sporadic amyotrophic lateral sclerosis (ALS). We report here that sustained overexpression of wild-type peripherin in mice provokes massive and selective degeneration of motor axons during aging. Remarkably, the onset of peripherin- mediated disease was precipitated by a deficiency of neurofilament light (NF-L) protein, a phenomenon associated with sporadic ALS. In NF-L null mice, the overexpression of peripherin led to early- onset formation of IF inclusions and to the selective death of spinal motor neurons at 6 mo of age. We also report the formation of similar peripherin inclusions in presymptomatic transgenic mice expressing a mutant form of superoxide dismutase linked to ALS. Taken together, these results suggest that IF inclusions containing peripherin may play a contributory role in motor neuron disease.[1]


  1. Late onset of motor neurons in mice overexpressing wild-type peripherin. Beaulieu, J.M., Nguyen, M.D., Julien, J.P. J. Cell Biol. (1999) [Pubmed]
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