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在小鼠基因治疗后,成熟的人类frataxin的表达和处理

Teerapat Rojsajjakul¹, Nithya Selvan², Bishnu De³

¹Department of Systems Pharmacology and Translational Therapeutics Perelman School of Medicine, Penn/CHOP Friedreich's Ataxia Center of Excellence, Center of Excellence in Environmental Toxicology, University of Pennsylvania, Philadelphia, PA, USA.

Scientific reports

|April 10, 2024

概括

使用AAVrh.10hFXN的基因治疗成功诱导了小鼠心脏和肝脏中人类frataxin (hFXN) 蛋白的治疗水平. 这种方法对治疗弗里德里希有希望.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

弗里德里希缺氧是一种遗传性疾病,导致frataxin (FXN) 缺乏和线粒体功能障碍.
基因疗法是一种有前途的治疗方法,但实现安全有效的FXN表达是具有挑战性的.

研究的目的:

在AAVrh.10hFXN基因治疗后评估人类FXN (hFXN) 表达和处理.
为了评估弗里德里希的抗氧症的治疗潜力.

主要方法:

在C57Bl/6小鼠中静脉注射编码hFXN的复合腺相关病毒 (AAVrh.10hFXN).
对hFXN表达水平和心脏和肝脏组织中切断的分析 7-10个月后.

主要成果:

AAVrh.10hFXN诱导了小鼠心脏和肝脏中的剂量依赖的hFXN表达.
hFXN被加工成截断的形式,但在较低水平比成熟的hFXN和不同位置比小鼠FXN (mFXN).
治疗hFXN水平接近内源mFXN水平.

结论:

AAVrh.10hFXN基因治疗可以在小鼠组织中诱导成熟hFXN的治疗水平.
这种方法有可能通过恢复frataxin水平来治疗弗里德里希的缺氧.

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