New link between fatal muscle wasting disease gene and cancer discovered

Feb. 28, 2023
New research has uncovered a novel link between the Duchenne muscular dystrophy (DMD) gene and cancer.

Mutations of the gene encoding dystrophins have long been known to cause the debilitating muscle-wasting disease DMD, which affects one in every 5,000 boys born. People with the condition will usually only live into their 20s or 30s.

Now, a study, led by the University of Portsmouth, has found that the same gene has a role in oncology. A team of international researchers analyzed a broad spectrum of malignant tissues, including from breast, ovarian, and gastrointestinal cancer patients.

The DMD gene expression was reduced in 80 percent of these tumors. This low expression of dystrophins was associated with a more advanced stage of cancer and reduced survival across different tumors.

The paper, published in Cancers, calls for a re-evaluation of the current view that dystrophin expression is only important in muscles, and when found across numerous tissues is the result of an “illegitimate transcription”.

University of Portsmouth release