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Duchenne muscular dystrophy: pathology, diagnostic strategies, and core molecular pathways

Published on June 30, 2026   14 min

A selection of talks on Genetics & Epigenetics

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Interviewer: Prof. Steve Wilton is a leading molecular geneticist and a pioneer of antisense therapy whose work has been central to developing treatments for Duchenne muscular dystrophy. Today, he joins us to discuss the disease's pathology, the underlying molecular pathways, and key diagnosis strategies. Prof. Wilton, thank you so much for joining us today. Prof. Wilton: Absolute pleasure. Interviewer: So let's start with the molecular basis of Duchenne muscular dystrophy. Can you take us through what is the molecular basis and what is the role of dystrophin in healthy muscles? Prof. Wilton: Duchenne muscular dystrophy is caused by spelling errors or mutations in the massive dystrophin gene. These errors compromise the gene message. They stop the instructions from being able to make a full-length functional protein. The dystrophin gene is the largest one in the human genome, spanning almost 2.3 million bases. The average gene is 30000 bases long, and has 8-10 exons. This is 2.3 million bases and has 79 exons for the full-length muscle isoform, which, when it's correctly processed, generates a mature messenger RNA of about 14000 bases. This is then translated into a protein. A protein that's 3685 amino acids long. Think of this large protein as a molecular shock absorber for the muscle. Both ends are needed for function. The problem with the dystrophin gene is that there are fragile sites within the gene that make it highly susceptible to breaks and rearrangements. Hence, almost two-thirds of Duchenne-causing mutations are deletions of one or more exons

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Duchenne muscular dystrophy: pathology, diagnostic strategies, and core molecular pathways

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