Comparison of Protein Expression Profiles Between Wild-type and SMA-like Motor neurons

• Main Authors: Ming-Wei Chen, 陳明偉
• Other Authors: Hung Li
• Format: Others
• Language: zh-TW
• Published: 2004
• Online Access: http://ndltd.ncl.edu.tw/handle/88006619991245088217

碩士 === 國立陽明大學 === 遺傳學研究所 === 92 === Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of spinal motor neurons. With an incidence of 1/10,000 live births, SMA is one of the most common genetic lethal disorder to infants. Positional cloning has revealed that Survival Motor Neuron (SMN) is the determinant gene. Homozygous mutations or deletions of the telomeric copy of SMN gene (SMN1) are found in all SMA patients, but the centrameric copy of SMN gene (SMN2) is still present. The major detectable product of SMN1 gene, the SMN protein, is a full-length 38kDa protein. SMN protein is ubiquitously expressed but is found at high levels in motor neurons. From previous studies, the biophysiological functions of SMN protein is linked to the pre-mRNA processing, cell apoptosis and gene expression, but the reason account for the death involved in spinal cord motor neuron is still unknown, and the pathogenic mechanism of SMA is currently unclear. We used a mouse motoneuron-like cell line (NSC-34) to establish the cell-base system mimicing SMA motor neurons. After transfecting human SMN2 genomic DNA, we knocked down mouse Smn gene expression of NSC-34 cells via RNA interference technique, and the SMA-like motor neurons were obtained. With proteomic analysis, the difference of protein expression between wild-type and SMA-like motor neurons could be identity. Profilin II, may be a candidate gene that expressed in different level between wild-type and SMA-like motor neuron. The results in this study may provide additional information for the pathogenic mechanism of SMA.