Gene protecting against leukaemia found in males

Scientists have discovered the first male-only gene that appears to protect against cancers including leukaemia.

In a study published in Nature Genetics, researchers set out to study a gene called UTX which is found on the X chromosome that is known to be mutated in several cancers including acute myeloid leukaemia (AML). However, they discovered that a related gene found on the Y chromosome, UTY, protected male mice from AML.

They also found that in AML and several other human cancers, mutations in UTX were accompanied by a loss of UTY, suggesting that this cancer-suppressing role of UTY extends beyond AML.

AML is an aggressive blood cancer that affects people of all ages, but is most common in older people. It develops in cells in the bone marrow and leads to life-threatening infections and bleeding. Mainstream AML treatments have remained unchanged for decades and fewer than 20 percent of those affected survive for five years after diagnosis.

'This is the first Y chromosome-specific gene that protects against AML,’ said Dr Malgorzata Gozdecka at the Wellcome Sanger Institute in Hinxton, and first author of the study. 'Previously it had been suggested that the only function of the Y chromosome is in creating male sexual characteristics, but our results indicate that the Y chromosome could also protect against AML and other cancers.'

Women have two X chromosomes while men have one X and one Y chromosome. The X and Y chromosomes share many genes, but a small number of genes, including UTY, are only found on the Y chromosome. The discovery of this new role changes the way the Y chromosome is viewed and improves understanding of how AML and other cancers develop.

'Survival rates for AML remain tragically low, with current treatment that involves intensive chemotherapy, often combined with a stem cell transplant, only curing a small proportion of patients,' said Dr Alasdair Rankin, Director of Research at the charity Bloodwise in London, which part-funded the research.

'This important research helps build a fuller picture of what goes wrong genetically as this highly aggressive leukaemia develops. Understanding this process is key to developing targeted drugs for AML, allowing us to move away from gruelling and often ineffective chemotherapy-based treatments.'