IDENTIFICATION AND CHARACTERIZATION OF PERIPHERIN ISOFORMS IN AMYOTROPHIC LATERAL SCLEROSIS

摘要: Peripherin is a type III intermediate filament protein that predominately expressed in the peripheral nervous system and subsets of efferent projections central systems. While exact role peripherin remains unclear, it found upregulated after traumatic neuronal injury devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS). Interestingly, overexpressing transgenic mice succumb to motor neuron with pathological hallmarks reminiscent those ALS. Pathological abnormalities occur high frequency both familial sporadic forms ALS, associated majority intracellular inclusions present within degenerating populations. The findings mutations ALS have reinforced importance as prospective etiological or propagative factor pathogenesis. Surprisingly, inherited gene not been identified; such, understanding post-transcriptional mechanism at which imparts its effect(s) considered key goal represents point-ofconvergence for an otherwise complex, multifaceted disease. Prior commencement this work, our group identified presence abnormal alternative splice variant In doing so, we consistently observed second species ~45 kDa on immunoblots cell lysates derived from fulllength transfections. Here, constitutively isoform, termed Per-45, arises translation required normal assembly: changes isoform expression pattern are malformed filaments inclusions. lieu