Duchenne muscular dystrophy gene (DMD) (DMD)

The target 'hepatocytes exposed to MyoAAV4A-CK8e-ABE' refers to an experimental condition used to evaluate the safety and specificity of a gene therapy system designed for Duchenne muscular dystrophy (DMD). The actual therapeutic target is the DMD gene, which encodes dystrophin, a critical structural protein that protects muscle fibers from damage during contraction (Tabebordbar et al., Cell 2021). The MyoAAV4A-CK8e-ABE system utilizes a myotropic AAV capsid (MyoAAV4A) and a muscle-specific promoter (CK8e) to deliver an Adenine Base Editor (ABE) to skeletal and cardiac muscle (Ivakine et al., MDA Conference 2024). The ABE is engineered to perform precise A-to-G base transitions to correct pathogenic nonsense mutations, such as the c.9445C>T (p.Q3149X) variant, thereby restoring the production of functional, full-length dystrophin. In the context of hepatocytes, researchers monitor these cells to ensure the vector's liver de-targeting efficiency and to assess the risk of unintended off-target editing or immune-mediated hepatotoxicity in non-target tissues.

Other names

Dystrophin geneDMDDystrophinBMD

Adenine base editing (A-to-G transition) to correct nonsense mutations and restore full-length protein expression