肌萎缩性侧索硬化症患者的 utrophin 与疾病严重程度相关。
Utrophin correlates with disease severity in Duchenne muscular dystrophy.
机构信息
Paris-Saclay University, UVSQ, INSERM-UMR1179, END-ICAP Laboratory, 78000 Versailles, France; SQY Therapeutics, 78180 Montigny-Le-Bretonneux, France.
Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford OX1 3PT, UK.
出版信息
Med. 2023 Apr 14;4(4):220-222. doi: 10.1016/j.medj.2023.03.005.
This month in Med, the description of an unusually severely affected DMD patient suffering from a large deletion in the dystrophin gene confirms that absence of utrophin worsens the dystrophy and supports the concept that utrophin upregulation ameliorates the pathology. This study may guide the development of dystrophin-based gene therapies.
本月的《医学》杂志中，一篇关于一名患有严重肌营养不良症（DMD）患者的描述文章引人注目，该患者的抗肌萎缩蛋白基因存在大片段缺失。这一病例进一步证实了肌联蛋白缺失会加重肌营养不良，同时也支持肌联蛋白上调可以改善病理的假说。该研究或能为基于抗肌萎缩蛋白的基因治疗方法的发展提供指导。
Zotero 插件