Gene discovery sheds light on leukaemia:
US researchers have discovered a gene mutation that dramatically increases the risk of leukaemia. The study, carried out by a group based at Ohio State University and published in the journal Cell, found a small change in a gene called DAPK1. People who inherit this version of the gene have a seven-fold increase in risk of developing chronic lymphoblastic leukaemia (CLL).
CLL - the most common adult form of leukaemia in the western world – affects a person’s white blood cells. These cells usually fight infection, but in CLL, faulty cells slowly replace normal ones in the blood and bone marrow, leading to a number of symptoms which eventually prove fatal.
CLL - the most common adult form of leukaemia in the western world – affects a person’s white blood cells. These cells usually fight infection, but in CLL, faulty cells slowly replace normal ones in the blood and bone marrow, leading to a number of symptoms which eventually prove fatal.
About 10 per cent of all CLL cases are thought to be inherited, but until now, little was known about the genetic triggers that can cause the disease. The DAPK1 gene makes a protein that helps potentially cancerous cells destroy themselves before they can do any harm. The faulty version of the gene is less active, which the researchers think may allow cancer cells to survive and keep multiplying, unchecked.
The team first identified the genetic mutation by studying a family in which the father, four sons, a grandson and distant female relative had all been affected by CLL. It is not yet known how common the DAPK1 mutation is within the general population. If it proves to be widespread, then it would provide an exciting and welcome target for screening, as well as for new treatments. For example, it could be possible to ‘reactivate’ the DAPK1 gene in CLL patients, which may help destroy the faulty white blood cells.
Sources:
Common leukaemia pegged to inherited gene mutation: New Scientist: 31 May 2007
Downregulation of Death-Associated Protein Kinase 1 (DAPK1) in Chronic Lymphocytic Leukemia: Cell: 1 June 2007