Proteomic assessment of a cell model of spinal muscular atrophy |
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| Authors: | Chia-Yen Wu Dosh Whye Lisa Glazewski Leila Choe Douglas Kerr Kelvin H Lee Robert W Mason Wenlan Wang |
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| Affiliation: | (1) Department of Biological Science, University of Delaware, Newark, DE, USA;(2) Department of Pediatrics, Columbia University Medical Center, New York, NY, USA;(3) Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA;(4) Delaware Biotechnology Institute, Newark, DE, USA;(5) Experimental Neurology, Biogen Idec, Cambridge, MA, USA;(6) Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA |
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| Abstract: | Background Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. Complete loss of the SMN protein is embryonically lethal, yet reduced levels of this protein result in selective death of motor neurons. Why motor neurons are specifically targeted by SMN deficiency remains to be determined. In this study, embryonic stem (ES) cells derived from a severe SMA mouse model were differentiated into motor neurons in vitro by addition of retinoic acid and sonic hedgehog agonist. Proteomic and western blot analyses were used to probe protein expression alterations in this cell-culture model of SMA that could be relevant to the disease. |
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