Proteomic profile of embryonic stem cells with low survival motor neuron protein is consistent with developmental dysfunction

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• 作者：Graham C. Parker ; Nicholas J. Carruthers ; Theresa Gratsch…
• 关键词：Spinal muscular atrophy ; Stem cells ; Mass spectrometry ; Proteomics
• 刊名：Journal of Neural Transmission
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：124
• 期：1
• 页码：13-23
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Neurology; Psychiatry; Pharmacology/Toxicology; Neurosciences;
• 出版者：Springer Vienna
• ISSN：1435-1463
• 卷排序：124

文摘

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.