Researchers at Westlake University in Zhejiang have made a major breakthrough in understanding Duchenne Muscular Dystrophy, a fatal genetic disorder that weakens muscles and often leads to early death.

Published in Nature on Dec 11, the study reveals the full structure of the dystrophin glycoprotein complex, a protein essential for stabilizing muscle cells. Using cryo-electron microscopy, the team captured the first high-resolution images of the complex, ending a 30-year quest to map its structure.

DMD occurs when mutations in the dystrophin gene, the longest in the human genome, disrupt DGC function. Without this "shock absorber" to distribute mechanical stress, muscle cells deteriorate. The team pinpointed three critical areas of the complex where most disease-causing mutations occur, offering fresh insight into the disorder's root causes.

The findings may pave the way for improved gene therapies. Current treatments struggle with delivering the massive dystrophin gene to patients. Westlake's research offers clues to designing more effective solutions, bringing new hope to those living with this devastating condition.