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[天使综合征:当前的治疗方法与未来疗法]

[Angelman syndrome: current approach and the future of therapies].

作者信息

Sell Erick, Heymans Jessica

机构信息

Departamento de Neurología Pediátrica, Children's Hospital of Eastern Ontario, Canadá. E-mail:

Estudiante de Medicina, University of Medicine and Health Sciences, Basseterre, St. Kitts and Nevis.

出版信息

Medicina (B Aires). 2024 Sep;84 Suppl 3:15-20.

Abstract

Angelman syndrome is a severe neurodevelopmental disorder secondary to disruption of the UBE3A gene in the maternal allele of chromosome 15. Its manifestations are mainly neurological, but a multidisciplinary management is required for its treatment. There are consensus guidelines available for best clinical management. Current clinical trials with antisense oligonucleotides promise, for the first time, to treat the cause by activating the UBE3A gene in the paternal allele, showing encouraging preliminary clinical effects. Inoculation of UBE3A gene through a viral vector has been tested in animal models and is underway for future clinical trials.

摘要

安吉尔曼综合征是一种严重的神经发育障碍,继发于15号染色体母本等位基因中UBE3A基因的破坏。其表现主要为神经方面的,但治疗需要多学科管理。目前有关于最佳临床管理的共识指南。目前使用反义寡核苷酸的临床试验首次有望通过激活父本等位基因中的UBE3A基因来治疗病因,显示出令人鼓舞的初步临床效果。通过病毒载体接种UBE3A基因已在动物模型中进行测试,并正在开展未来的临床试验。

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