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在肌肉发育不良的小鼠模型中,产后基因组编辑部分恢复了素表达

Chengzu Long¹, Leonela Amoasii¹, Alex A Mireault¹

¹Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Science (New York, N.Y.)

|January 2, 2016

概括

通过修改CRISPR基因,可以通过恢复dystrophin蛋白来纠正小鼠的杜氏肌肉发育不良 (DMD). 这种产后体内基因编辑方法对出生后遗传疾病的治疗具有前景.

科学领域:

生物技术
遗传学
分子生物学

背景情况:

杜申肌肉发育不良 (DMD) 是一种由发育不良基因突变引起的遗传性疾病.
CRISPR/Cas9基因组编辑为治疗DMD等遗传疾病提供了潜力.

研究的目的:

评估通过腺相关病毒-9 (AAV9) 输送的CRISPR/ Cas9在产后小鼠中纠正DMD的疗效.
评估不同的AAV9输送方法及其对肌肉表达和功能的影响.

主要方法:

使用腺相关病毒-9 (AAV9) 将CRISPR/ Cas9组件输送给出生后的mdx小鼠 (一个DMD模型).
对AAV9输送途径进行系统检测:腹膜内 (P1),肌肉内 (P12) 和后轨道 (P18).
在心脏和骨肌肉和握力测试中评估基蛋白恢复.

主要成果:

所有经过测试的AAV9输送方法都恢复了心脏和骨肌肉中的肌蛋白表达.
药物注射后3至12周的时间里,素的表达水平有所增加.
产后基因编辑显著改善了骨肌肉功能,

结论:

通过AAV9进行产后体内CRISPR/ Cas9输送是纠正DMD的可行策略.
这种基因编辑方法有可能治疗出生后的DMD和其他单基因疾病.

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