Duque Sandra, Joussemet Béatrice, Riviere Christel, Marais Thibaut, Dubreil Laurence, Douar Anne-Marie, Fyfe John, Moullier Philippe, Colle Marie-Anne, Barkats Martine
CNRS FRE-GENETHON, Evry, France.
Mol Ther. 2009 Jul;17(7):1187-96. doi: 10.1038/mt.2009.71. Epub 2009 Apr 14.
Therapeutic gene delivery to the whole spinal cord is a major challenge for the treatment of motor neuron (MN) diseases. Systemic administration of viral gene vectors would provide an optimal means for the long-term delivery of therapeutic molecules from blood to the spinal cord but this approach is hindered by the presence of the blood-brain barrier (BBB). Here, we describe the first successful study of MN transduction in adult animals following intravenous (i.v.) delivery of self-complementary (sc) AAV9 vectors (up to 28% in mice). Intravenous MN transduction was achieved in adults without pharmacological disruption of the BBB and transgene expression lasted at least 5 months. Importantly, this finding was successfully translated to large animals, with the demonstration of an efficient systemic scAAV9 gene delivery to the neonate and adult cat spinal cord. This new and noninvasive procedure raises the hope of whole spinal cord correction of MN diseases and may lead to the development of new gene therapy protocols in patients.
向整个脊髓进行治疗性基因递送是治疗运动神经元(MN)疾病的一项重大挑战。全身性给予病毒基因载体将为治疗性分子从血液长期递送至脊髓提供一种理想手段,但这种方法因血脑屏障(BBB)的存在而受到阻碍。在此,我们描述了首次成功的研究,即在成年动物静脉内(i.v.)递送自互补(sc)AAV9载体后实现MN转导(小鼠中高达28%)。在未对血脑屏障进行药理学破坏的情况下,成年动物实现了静脉内MN转导,且转基因表达持续至少5个月。重要的是,这一发现成功转化至大型动物,证明了scAAV9基因能够有效地全身性递送至新生和成年猫的脊髓。这种新的非侵入性方法为MN疾病的全脊髓矫正带来了希望,并可能促使针对患者的新基因治疗方案的开发。