Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy
Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy
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基因疗法：治疗脊髓性肌萎缩症的一种有前途的方法
DOI：
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发表时间：
2014
期刊：
影响因子：
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通讯作者：
AzzouzMimoun
中科院分区：
文献类型：
--
作者：
J. MulcahyPádraig;IremongerKayleigh;KarykaEvangelia;Herranz;ShumKa;TamJanice Kal Van;AzzouzMimoun
脊髓性肌萎缩症（SMA）是一种严重的常染色体隐性遗传病，由存活运动神经元1 （SMN1）基因的遗传缺陷引起，该基因编码SMN，一种在所有真核细胞中广泛表达的蛋白。SMN蛋白的消耗导致肌萎缩症患者肌肉无力和进行性运动丧失。在过去的十年中，基因治疗领域取得了重大进展，通过体内或离体技术将基因传递到中枢神经系统（CNS）是神经科学中一个快速发展的领域。尽管帕金森病、阿尔茨海默病和肌萎缩侧索硬化症是人类最常见的神经退行性疾病，也是治疗发展的诱人目标，但它们的多因素起源和复杂的遗传学使它们不太适合基因治疗。由单个基因修饰引起的单基因疾病，如SMA，被证明是更有利的，并且一直处于潜在基因治疗进化的前沿。
Abstract Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by a genetic defect in the survival motor neuron 1 (SMN1) gene, which encodes SMN, a protein widely expressed in all eukaryotic cells. Depletion of the SMN protein causes muscle weakness and progressive loss of movement in SMA patients. The field of gene therapy has made major advances over the past decade, and gene delivery to the central nervous system (CNS) by in vivo or ex vivo techniques is a rapidly emerging field in neuroscience. Despite Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis being among the most common neurodegenerative diseases in humans and attractive targets for treatment development, their multifactorial origin and complicated genetics make them less amenable to gene therapy. Monogenic disorders resulting from modifications in a single gene, such as SMA, prove more favorable and have been at the fore of this evolution of potential gene therapies, and results to date have b...
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