Reilly Aoife, Deguise Marc-Olivier, Beauvais Ariane, Yaworski Rebecca, Thebault Simon, Tessier Daniel R, Tabard-Cossa Vincent, Hensel Niko, Schneider Bernard L, Kothary Rashmi
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada.
Gene Ther. 2022 Sep;29(9):544-554. doi: 10.1038/s41434-022-00338-1. Epub 2022 Apr 25.
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the SMN1 gene and low SMN protein levels. Although lower motor neurons are a primary target, there is evidence that peripheral organ defects contribute to SMA. Current SMA gene therapy and clinical trials use a single intravenous bolus of the blood-brain-barrier penetrant scAAV9-cba-SMN by either systemic or central nervous system (CNS) delivery, resulting in impressive amelioration of the clinical phenotype but not a complete cure. The impact of scAAV9-cba-SMN treatment regimens on the CNS as well as on specific peripheral organs is yet to be described in a comparative manner. Therefore, we injected SMA mice with scAAV9-cba-SMN either intravenously (IV) for peripheral SMN restoration or intracerebroventricularly (ICV) for CNS-focused SMN restoration. In our system, ICV injections increased SMN in peripheral organs and the CNS while IV administration increased SMN in peripheral tissues only, largely omitting the CNS. Both treatments rescued several peripheral phenotypes while only ICV injections were neuroprotective. Surprisingly, both delivery routes resulted in a robust rescue effect on survival, weight, and motor function, which in IV-treated mice relied on peripheral SMN restoration but not on targeting the motor neurons. This demonstrates the independent contribution of peripheral organs to SMA pathology and suggests that treatments should not be restricted to motor neurons.
脊髓性肌萎缩症(SMA)是一种由SMN1基因缺失和SMN蛋白水平低下引起的神经肌肉疾病。虽然下运动神经元是主要靶点,但有证据表明外周器官缺陷也会导致SMA。目前的SMA基因治疗和临床试验通过全身或中枢神经系统(CNS)递送,单次静脉推注血脑屏障穿透剂scAAV9-cba-SMN,这使得临床表型得到了显著改善,但并未完全治愈。scAAV9-cba-SMN治疗方案对中枢神经系统以及特定外周器官的影响尚未进行比较性描述。因此,我们给SMA小鼠静脉注射(IV)scAAV9-cba-SMN以恢复外周SMN,或脑室内注射(ICV)以恢复中枢神经系统的SMN。在我们的系统中,脑室内注射增加了外周器官和中枢神经系统中的SMN,而静脉给药仅增加了外周组织中的SMN,很大程度上未涉及中枢神经系统。两种治疗方法都挽救了几种外周表型,而只有脑室内注射具有神经保护作用。令人惊讶的是,两种给药途径都对生存、体重和运动功能产生了强大的挽救作用,在静脉注射治疗的小鼠中,这种作用依赖于外周SMN的恢复,而不是靶向运动神经元。这证明了外周器官对SMA病理的独立贡献,并表明治疗不应局限于运动神经元。