New link between fatal muscle wasting disease gene and cancer discovered

Portsmouth [UK], February 27 (ANI): One in every 5,000 boys born suffers from the crippling muscle-wasting illness DMD, which is known to be caused by mutations of the dystrophins gene. Typically, those who have the illness only survive into their 20s or 30s.

The same gene is now believed to play a role in oncology, according to a study conducted by the University of Portsmouth. A group of worldwide researchers examined a wide range of malignant tissues, including those from patients with gastrointestinal, ovarian, and breast cancer.

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

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".

Senior author, Professor Darek Gorecki from the School of Pharmacy and Biological Sciences at the University of Portsmouth, said: "The findings that the DMD gene has a role in tumours, expands the growing evidence of its significance beyond Duchenne muscular dystrophy.

"Further investigation is needed to better understand the role of DMD in malignancies and how it may be exploited in monitoring cancer progression and treatment."Moreover, these findings build on the recent discovery that the disease begins much earlier than previously thought. In 2021, the team published the results of modelling DMD to look at its development, from its initial trigger and first manifestation. They found evidence of abnormalities even before birth in the embryo.

Given the similarities between early embryo development and cancer formation, including invasive potential, changes in gene expression and other vital behaviours, the team decided to investigate the DMD gene across the spectrum of tumours, which led to this discovery.

Most boys with DMD are diagnosed between two and five years old by which time the damage to their bodies is already significant.

Professor Gorecki says these new findings should be taken into consideration as delay in identifying the condition may be preventing therapeutic interventions that could help slow, if not stop, disease progression.

"The job of DMD, the largest human gene known, is far more complex than previously believed", he explained.

"It must be better understood if we want to find effective treatments for pathologies caused by its mutations." (ANI)