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Article

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy

10 Mar 2021

Abstract excerpt

Mutations in the GJB1 gene, encoding the gap junction (GJ) protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy. We developed a gene therapy approach for CMT1X using an AAV9 vector to deliver the GJB1/Cx32 gene under the myelin protein zero (Mpz) promoter for targeted expression in Schwann cells. Lumbar intrathecal injection of the AAV9-Mpz.GJB1...

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PMID: 33692503
DOI: 10.1038/s41434-021-00250-0

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