title: Proteomic profile of embryonic stem cells with low survival motor neuron protein is consistent with developmental dysfunction.
abstract: Spinal muscular atrophy is an autosomal recessive motor neuron disease caused by a genetic defect carried by as many as one in 75 people. Unlike most neurological disorders, we know exactly what the genetic basis is of the disorder, but in spite of this, have little understanding of why the low levels of one protein, survival motor neuron protein, results in the specific progressive die back of only one cell type in the body, the motor neuron. Given the fact that all cells in the body of a patient with spinal muscular atrophy share the same low abundance of the protein throughout development, an appropriate approach is to ask how lower levels of survival motor neuron protein affects the proteome of embryonic stem cells prior to development. Convergent biostatistical analyses of a discovery proteomic analysis of these cells provide results that are consistent with the pathomechanistic fate of the developed motor neuron.
authors.affiliation: Carman and Ann Adam Department of Pediatrics, Wayne State University, Detroit, USA. gparker@med.wayne.edu.|iBio, 6135 Woodward Ave., Suite 2128 CURES H208, Detroit, MI, 48202, USA. gparker@med.wayne.edu.
authors.forename: Graham C
authors.initials: GC
authors.lastname: Parker
authors.affiliation: Institute of Environmental Health Sciences, Wayne State University, Detroit, MI, USA.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Carruthers
authors.affiliation: Carman and Ann Adam Department of Pediatrics, Wayne State University, Detroit, USA.
authors.forename: Theresa
authors.initials: T
authors.lastname: Gratsch
authors.affiliation: Institute of Environmental Health Sciences, Wayne State University, Detroit, MI, USA.
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Caruso
authors.affiliation: Institute of Environmental Health Sciences, Wayne State University, Detroit, MI, USA.
authors.forename: Paul M
authors.initials: PM
authors.lastname: Stemmer
mesh_terms: D000818:Animals; D002478:Cells, Cultured; D002658:Developmental Disabilities / Q000378:metabolism; D053595:Embryonic Stem Cells / Q000378:metabolism*; D013058:Mass Spectrometry; D051379:Mice; D009134:Muscular Atrophy, Spinal / Q000378:metabolism; D020543:Proteome; D040901:Proteomics; D055533:Survival of Motor Neuron 1 Protein / Q000378:metabolism*
chemical_list: D020543:Proteome; C526472:Smn1 protein, mouse; D055533:Survival of Motor Neuron 1 Protein
keywords: Mass spectrometry; Proteomics; Spinal muscular atrophy; Stem cells