New link discovered between DMD gene and cancer

Researchers from the University of Portsmouth have discovered a new link between the Duchenne Muscular Dystrophy (DMD) gene and cancer. The researchers call for a re-evaluation of the current view on dystrophin gene expression and its known role in the body's muscles and tissues.

The study, published in Cancers MDPI, found that dystrophin gene expression was reduced in 80 per cent of the tumours examined, and the gene was present in more advanced stages of cancer. Professor Darek Gorecki, senior author of the paper, explains how this study adds to the growing evidence of the dystrophin gene's significance beyond DMD, and opens opportunities to better understand its role in cancer monitoring and treatment.

“The job of DMD, the largest human gene known, is far more complex than previously believed,” Prof. Gorecki explains. “It must be better understood if we want to find effective treatments for pathologies caused by its mutations.”

Building upon previous research revealing that the DMD disease begins much earlier than previously thought, the team investigated the dystrophin gene across a spectrum of tumours. They were motivated by similarities identified between early embryo development and cancer formation, such as invasive potential and altered gene expression. This led them to uncover evidence of abnormalities in the embryo, even before birth, due to mutations in the dystrophin gene, which causes a lack of dystrophin protein in patients.

The research team further investigated the dystrophin gene across a spectrum of tumours and found malignant tissue mutations in the dystrophin gene expression present in breast, ovarian, and gastrointestinal cancer tumours. Prof. Gorecki explains how this discovery can lead to understanding the role of the dystrophin gene in malignancies.

As the dystrophin gene is found on the X-chromosome, it almost exclusively affects males, those with the condition usually only living into their 20s or 30s. Understanding dystrophin expression beyond its role in muscles and across numerous tissues can lead to earlier DMD detection. Currently, most diagnoses occur in patients between two and five years old, by which time the damage to their bodies is already significant.

Unveiling this knowledge of the dystrophin gene’s role in advanced tumours could lead to early identification of DMD in patients and aid in therapeutic interventions to slow or stop disease progression.

The researchers hope that a re-evaluation of the current view of dystrophin gene expression will progress a clearer understanding of the gene's development and presence in the body. Further investigation is needed to better understand the link between the gene and cancer and how it may benefit patients with DMD or cancer.