CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of survival motor neuron (SMN) due to mutations in the SMN1 gene. In this study, an adeno-associated virus (AAV) vector expressing human SMN (AAV8-hSMN) was injected at birth into the CNS of mice modeling SMA. Western blot analysis showed that these injections resulted in widespread expression of SMN throughout the spinal cord, and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Muscle Physiology and Disorders
• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA modifications and cancer