Gene protects against acute leukaemia

Gene protects against acute leukaemia

Illuminate newsletter index page, June 2019
June 2019

Associate Professor Anne Voss, Asscoiate Professor Tim Thomas and Dr Helen McRae
Associate Professor Anne Voss, Asscoiate Professor Tim
Thomas and Dr Helen McRae.

A gene called PHF6 has been found to play a powerful role in protecting against blood cancer.

Published in the journal Blood, the study led by Institute researchers found that the PHF6 gene limits cell division, an important hallmark of cancer. The team revealed that a breakdown in PHF6 function could accelerate blood cancer development.

Dr Helen McRae who co-led the research said PHF6 was well worth investigating because it was the fifth most common mutation associated with the development of T cell acute lymphoblastic leukaemia (T-ALL).

“Half of all adult patients with T-ALL do notsurvive beyond five years, so preventions and treatments are really needed,” she said.

Restoring protective function

Mutations in PHF6 generally occur during a patient’s lifetime due to environmental factors and errors in DNA repair, a collection of processes by which a cell identifies and corrects any damage. In some rare cases, people are born with PHF6 mutations where the gene isn’t functioning as it should from the outset.

Impact going forward

The research highlights the need to find ways to restore the function of the gene in adult patients with mutated PHF6, as well as the importance of closely monitoring infants born without PHF6 functioning to ensure that any cancer is detected early.

Super Content: 
Three cancer researchers sitting outside

Researchers have identified a gene mutation that causes resistance to venetoclax in some patients with CLL.

The finding could help overcome drug resistance and improve treatment options.

Dr Ben Shields and Dr Matt McCormack

Dr Ben Shields and Dr Matt McCormack have shown they can stop leukaemia in its tracks by targeting a protein that puts the handbrake on cancer cell growth.