作者
Miguel A Lopez Perez, Kassidy K Banford, Hannah R Bulgart, Gianni Giarrano, Noah Weisleder
发表日期
2024/5/21
来源
Physiology
卷号
39
期号
S1
页码范围
1462
出版商
American Physiological Society
简介
Duchenne Muscular Dystrophy (DMD) is the most prevalent hereditary neuromuscular disease and involves progressive muscle degeneration that contributes to early death. DMD is caused by mutations in the dystrophin gene, which eliminates its expression and leads to compromised structural integrity of the muscle cell plasma membrane. Although there is no cure for DMD, a recently approved gene therapy has shown desirable primary endpoints, including dystrophin expression, but limited secondary functional endpoints. Moreover, this genetic approach is limited to patients within a narrow age range. Therefore, novel therapies addressing the underlying structural cause of the disease remain necessary. The tripartite motif protein 72/mitsugumin 53 (TRIM72/MG53) is integral for an effective membrane repair response after injury. We have reported that overexpression of MG53 or exogenous delivery of …