P29 DMD transcript imbalance and nuclear trafficking evaluation in muscle biopsies from baseline and golodirsen treated 4053-101 clinical trial patients

Duchenne muscular dystrophy (DMD) is an X-linked, rare, neuromuscular disease caused by mutations in the DMD gene affecting its reading frame. This results in a substantial reduction or absence of dystrophin protein and a non-uniform expression of the DMD transcript throughout its 14-kb length, the so-called transcript imbalance. Recent evidence has also found an impairment in the sub-cellular localization of the DMD transcript in mdx mice, demonstrating nuclear retention, compared to wild type.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: R. Rossi, S. Singh, S. Torelli, F. Catapano, D. Chambers, J. Morgan, J. Malhotra, F. Muntoni Source Type: research