Dystrophin and Beyond: A Review of Genetic Landscape of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a very severe, progressive, and lethal disease of skeletal muscle degeneration, respiratory complications, and cardiomyopathy. The identification of the dystrophin gene requires an understanding of the muscle protein and its working mechanism. The learnings from decades of research in life sciences could establish the functionalities of dystrophin in striated muscle. Here, we discuss the pathophysiological basis and the recent advancement of DMD towards the therapeutic approaches that are currently close to or are under ongoing clinical trials in humans. We attempted to summarise the current understanding of DMD – the dystrophin glycoprotein complex and chronic inflammation. Understanding the complex pathophysiology of DMD is crucial for the development of effective treatment and adds hope to the ongoing experimental research.