Jerry Y. Liu
Spinal muscular atrophy (SMA) is a debilitating neurodegenerative disease caused by deficiencies of survival of motor neuron (SMN) proteins resulting from deletions and/or mutations in the SMN1 gene. While SMN protein deficiency is known to cause SMA, the molecular mechanisms that underlie the disease pathogenesis have yet to be elucidated. The best characterized role of SMN is in mRNA processing but given the importance of this function to all cells it is unclear how SMN deficiency leads to selective motor neuron cell loss. In SMA, compromised axonal transport and cytoskeletal dynamics has been proposed to, at least in part, account for the selective vulnerability of motor neurons. I will begin to address the role of SMN in cytoskeletal organization in muscle and nerve, tissues profoundly affected in the disease. I will characterize the interactions between SMN and cytoskeletal proteins and identify the domains of SMN that mediate these interactions by co- immunoprecipitation and western blotting. I will also investigate the effect of SMN reduction on cytoskeletal dynamics by immunocytochemistry. This information will increase our understanding of the normal function of SMN and may provide insight into pathways that may be compromised in the disease.
Last updated December 23, 2013