Scientists, including one of Indian-origin, have discovered a gene which is directly related to both ageing and cancer. Professor Kristijan Ramadan, Associate Professor and Medical Research Council (MRC) Senior Group Leader in the University of Oxford’s Department of Oncology, his team Dr Bruno Vaz, Swagata Halder and Judith Oehler, and colleagues investigated three boys from Morocco and Australia.

All three boys developed very early liver cancer and two died while still teenagers.“This is remarkable because this type of liver cancer is usually associated with either hepatitis infection or from alcohol abuse, but in both cases is rarely seen before late middle age,” researchers said.

All three boys also showed significant signs of early ageing such as chromosomal instability, low body weight, lipodystrophy and muscular degeneration.

Carefully looking at the boys’ genetic code, the scientists discovered one gene which was damaged in all three cases.The gene is called SPRTN, which researchers said is very important for preventing mutations which arise when cells try to repair DNA that has been damaged during the process of copying; something that happens all our lives, whenever new cells are needed.

Researchers said having a damaged version of the SPRTN gene leaves people very vulnerable to picking up mutations whenever their cells copy their DNA. “Having damaged DNA and repairing DNA is a normal daily routine for your body, and one it handles very well, but nothing is perfect and over time, small mistakes build up and this in part explains why we age the way we do,” said researchers. “It also explains how cancer can get started,” they said.

In case someone has damaged SPRTN, mutations build-up very quickly - the result is that the signs of ageing and development of cancer happen maybe five decades before they would normally.

“The group discovered the first monogenic cause of hepatocellular carcinoma, which suggests SPRTN as a subject for further study of hepatocarcinogenesis,” researchers said. Understanding how we age and how we get cancer is vital if we are to develop new ways of early detection and better treatments, they said. The research was published in the journal Nature Genetics.

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