存活运动神经元基因在人胎儿组织中的表达研究

G. Novelli , L. Calzà , P. Amicucci , L. Giardino , M. Pozza , V. Silani , A. Pizzuti , M. Gennarelli , G. Piombo , F. Capon , B. Dallapiccola
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引用次数: 30

摘要

为了研究脊髓性肌萎缩症(SMA)的发病过程,采用RT-PCR和原位杂交技术分析了人胎儿组织中存活运动神经元基因(SMN)的表达。这些研究允许在所有被检查的组织中检测到SMN RNA,不同发育阶段之间没有显着变化。特别是,在脊髓(背侧和腹侧部分)、骨骼肌、肺、心脏、肾脏、肝脏和脾脏中检测到SMN mRNA。此外,RT-PCR研究表明SMN亚型的表达模式与成人组织中观察到的相似。目前的数据证实了SMN蛋白的管家作用,并可能对寻找早期治疗策略产生影响。
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Expression Study of Survival Motor Neuron Gene in Human Fetal Tissues

In order to investigate the spinal muscular atrophy (SMA) disease processes, the expression of the survival motor neuron gene (SMN) has been analyzed in human fetal tissues using RT–PCR andin situhybridization. These studies allowed the detection of SMN RNA in all the examined tissues, with no significant variation between different developmental stages. In particular, SMN mRNA was detected in spinal cord (dorsal and ventral portions), skeletal muscle, lung, heart, kidney, liver, and spleen. Moreover, RT–PCR studies demonstrated that the expression pattern of SMN isoforms was similar to that observed in adult tissues. The present data confirm a housekeeping role for the SMN protein and may have implications on the search for early therapeutic strategies.

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