Induced pluripotent stem cells from a spinal muscular atrophy patient (Nature, 2009, 457:277-280)

報告日期: 2009/05/05
報告時間: 15:10/16:00
報告學生: 王冠傑(英文報告)
講評老師: 謝清河

Induced pluripotent stem cells from a spinal muscular atrophy patient

Allison D. Ebert, Junying Yu, Ferrill F. Rose Jr, Virginia B. Mattis, Christian L. Lorson, James A. Thomson & Clive N. Svendsen


Nature , 457(15) 2009


Speaker  : 王冠傑

Commentator : 謝清河 老師

Date: 2009.5.5

Time: 15:10-16:00

Room: 602



   Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of spinal cord motor neurons. It is caused by mutations in the survival motor neuron 1 gene (SMN1), which results in muscular atrophy and weakness. The clinical symptoms of SMA range from infant death to normal adult with only milder muscular weakness. Recently, animal models have been established to investigate SMA. However, a more complicated genetic manipulation is required to mimic SMA in human due to differences in genetic background. Based on the aforementioned reason, authors created a human cell-based model in which skin fibroblasts from a child with type I SMA were used to generate induced pluripotent stem (iPS) cells. They demonstrated that iPS cells could successfully differentiate into and neural cells and motor neurons, which lack SMN1 expression innately. Moreover, similar to previous studies, valproic acid and tobramycin were shown to increase production of SMN protein in iPS derived motor neuron cells. Taken together, this study provides a human-based model to observe disease-specific effects on motor neurons and treatment of drugs. This model may be used broadly to elucidate pathogenesis of diseases and development of therapeutic agents.


1.   Monani, U. R. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron 48, 885–896 (2005).

2.   Hsieh-Li, H. M. et al. A mouse model for spinal muscular atrophy. Nature Genet. 24, 66–70 (2000)