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Multiple spinal muscular atrophy disease-modifying effects of a Hspa8G470R synaptic chaperone variant
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DOI：10.1093/brain/awag224.png)
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Abstract
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Spinal muscular atrophy (SMA) is an oft-fatal infantile-onset neuromuscular disease caused by homozygous loss of the Survival of Motor Neuron 1 (SMN1) gene and, consequently, low SMN protein. Administration of SMN-inducing agents to SMA newborns prevents early mortality, but therapeutic outcomes vary considerably, and disease mechanisms remain poorly understood. Genetic modifiers can provide clues to disease mechanisms and serve as targets for novel treatments. Here, we describe how one such modifier, an Hspa8G470R synaptic chaperone variant we identified, suppresses SMA in model mice.
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