Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis

H Wang, B Yang, L Qiu, C Yang… - Human molecular …, 2014 - academic.oup.com
H Wang, B Yang, L Qiu, C Yang, J Kramer, Q Su, Y Guo, RH Brown Jr, G Gao, Z Xu
Human molecular genetics, 2014academic.oup.com
Amyotrophic lateral sclerosis (ALS) causes motor neuron degeneration and paralysis. No
treatment can significantly slow or arrest the disease progression. Mutations in the SOD1
gene cause a subset of familial ALS by a gain of toxicity. In principle, these cases could be
treated with RNAi that destroys the mutant mRNA, thereby abolishing the toxic protein.
However, no system is available to efficiently deliver the RNAi therapy. Recombinant
adenoassociated virus (rAAV) is a promising vehicle due to its long-lasting gene expression …
Abstract
Amyotrophic lateral sclerosis (ALS) causes motor neuron degeneration and paralysis. No treatment can significantly slow or arrest the disease progression. Mutations in the SOD1 gene cause a subset of familial ALS by a gain of toxicity. In principle, these cases could be treated with RNAi that destroys the mutant mRNA, thereby abolishing the toxic protein. However, no system is available to efficiently deliver the RNAi therapy. Recombinant adenoassociated virus (rAAV) is a promising vehicle due to its long-lasting gene expression and low toxicity. However, ALS afflicts broad areas of the central nervous system (CNS). A lack of practical means to spread rAAV broadly has hindered its application in treatment of ALS. To overcome this barrier, we injected several rAAV serotypes into the cerebrospinal fluid. We found that some rAAV serotypes such as rAAVrh10 and rAAV9 transduced cells throughout the length of the spinal cord following a single intrathecal injection and in the broad forebrain following a single injection into the third ventricle. Furthermore, a single intrathecal injection of rAAVrh10 robustly transduced motor neurons throughout the spinal cord in a non-human primate. These results suggested a therapeutic potential of this vector for ALS. To test this, we injected a rAAVrh10 vector that expressed an artificial miRNA targeting SOD1 into the SOD1G93A mice. This treatment knocked down the mutant SOD1 expression and slowed the disease progression. Our results demonstrate the potential of rAAVs for delivering gene therapy to treat ALS and other diseases that afflict broad areas of the CNS.
Oxford University Press