Survival Motor Neuron (SMN) is a ~38 kDa protein produced chiefly by the SMN1 gene, located on the telomeric portion of chromosome 5q. A nearly identical centromeric copy of the gene (SMN2) also produces a small amount of full-length SMN protein, but due to a translationally silent C-T transition that results in alternative splicing of the pre-mRNA, most of the resulting SMN is truncated, causing reduced protein stability and lower overall SMN levels. Deletion or mutation of the SMN1 gene results in a reduced level of full-length SMN protein and manifests as a range of neuromuscular phenotypes in humans as the disease spinal muscular atrophy (SMA). SMA is characterized by muscle weakness and atrophy, functional disability and is the most common lethal genetic disease of infants and toddlers. Approximately one in 35 adults is a carrier of the SMN1 mutation. The incidence of SMA is 1 in 6,000 to 1 in 10,000 live births. SMN protein is present in the cell cytoplasm, and also in the nucleus where it is concentrated in “gem” structures associated with Cajal bodies. SMN protein is a constituent of Gemin-containing complexes, and is thought to participate in many aspects of RNA metabolism. SMN complexes have been shown to mediate the assembly of uridine rich small nuclear ribonucleoproteins (snRNPs), which in turn act as critical components of spliceosomes.
Technical Info/Product Notes:
The kit was developed in collaboration with the SMA Foundation (New York, NY). Please read the complete kit insert before performing this assay. Protected by US Patent no. US. 6,080,577.
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls: R.I. Wadman, et al.; PLoS One 11, e0167087 (2016), Abstract; Full Text
Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy: M.E. Butchbach, et al.; Exp. Neurol. 279, 13 (2016), Application(s): Measured SMN protein levels in spinal cord extracts, Abstract;
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials: P. Zaworski, et al.; PLoS One 11, e0150640 (2016), Abstract; Full Text
Transcript, methylation and molecular docking analyses of the effects of HDAC inhibitors, SAHA and Dacinostat, on SMN2 expression in fibroblasts of SMA patients: J. Mohseni, et al. ; J. Hum. Genet. 61, 823 (2016), Application(s): Measured SMN protein in human cells, Abstract;
Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults: S.R. Renusch, et al.; J. Neuromuscul. Dis. 2, 119 (2015), Application(s): ELISA using PBMC cell lysate, Abstract; Full Text
Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy : L.P. Bogdanik, et al.; PNAS 112, E5863 (2015), Application(s): ELISA assesing SMN levels in mouse tissue homogenates, Abstract; Full Text
A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry: M. Arakawa, et al.; Biochem. Biophys. Res. Commun. 453, 368 (2014), Application(s): Use on dermal fibroblasts, Abstract;
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585: J. Schreml, et al.; Eur. J. Hum. Genet. 21, 643 (2013), Application(s): EIA using SMA fibroblast cell lines, Abstract; Full Text
Evaluation of Peripheral Blood Mononuclear Cell Processing and Analysis for Survival Motor Neuron Protein: D.T. Kobayashi, et al.; PLoS One 7, e50763 (2012), Application(s): ELISA using human cell lysate, Abstract; Full Text
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study: T.O. Crawford, et al.; PLoS One 7, e33572 (2012), Abstract; Full Text
Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses: D.T. Kobayashi, et al.; PLoS One 6, e24269 (2011), Application(s): ELISA using human cell lysate, Abstract; Full Text
