Neuromuscular disease: A novel imaging method to quantify low levels of dystrophin in Duchenne muscular dystrophy

摘要

Researchers have developed a new imaging method that enables reproducible quantification of dystrophin. This technique may help to detect small but clinically relevant changes in the levels of this protein in patients with Duchenne muscular dytrophy (DMD). DMD is an inherited disorder that causes muscle weakness and is characterized by low levels, or absence, of the protein dystrophin at the sarcolemma. "There are an increasing number of therapies entering clinical trials for DMD, and several of these are designed to restore dystrophin expression," explains Kevin Flanigan, from Nationwide Children's Hospital and The Ohio State Univeristy, OH, USA, and lead investigator of the study. "However, understanding the magnitude of treatment effects in these trials is difficult because there is not an agreed-upon assay for the quantification of immunofluorescent dystrophin staining."