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首页> 外文期刊>Nature >Induced Pluripotent Stem Cells From A Spinal Muscular Atrophy Patient
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Induced Pluripotent Stem Cells From A Spinal Muscular Atrophy Patient

机译：脊髓性肌萎缩症患者诱导多能干细胞

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Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients have selective loss of lower motor neurons resulting in muscle weakness, paralysis and often death. Although patient f ibroblasts have been used extensively to study spinal muscular atrophy, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem cells from skin fibroblast samples taken from a child with spinal muscular atrophy. These cells expanded robustly in culture, maintained the disease genotype and generated motor neurons that showed selective deficits compared to those derived from the child's unaffected mother. This is the first study to show that human induced pluripotent stem cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen new drug compounds and develop new therapies.
机译：脊髓性肌萎缩症是导致婴儿死亡的神经疾病的最常见遗传形式之一。患者的下运动神经元选择性丢失，从而导致肌肉无力，麻痹甚至死亡。尽管成纤维细胞患者已广泛用于研究脊髓性肌萎缩症，但运动神经元具有独特的解剖结构和生理学，可能是其易患疾病的基础。在这里，我们报告了从患有脊髓性肌萎缩症的儿童的皮肤成纤维细胞样品中诱导多能干细胞的产生。这些细胞在培养中能强劲扩增，保持疾病的基因型并产生运动神经元，与从孩子未受影响的母亲那里获得的神经元相比，它们表现出选择性的缺陷。这是第一项表明人类诱导的多能干细胞可用于模拟遗传性疾病中特定病理学的研究。因此，它代表了研究疾病机理，筛选新药物化合物和开发新疗法的有前途的资源。

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