A study by the University of Southampton, funded by Leukaemia Research, has revealed that vulnerability to blood cancers known as myeloproliferative disorders (MPDs) are linked to an area of a persons DNA, the JAK2 gene, which is highly prone to mutations.The study has found that the region of chromosome 9 that carries the JAK2 gene is inclined to develop mutations but only in individuals that have a certain genetic makeup. A mutated JAK 2 allows an over-production of red ad white blood cells via and abnormal message to the blood stem cells.
The scientists have discovered that by carrying this mutation prone gene in your genetic makeup, you triple the risk of developing and MPD. While only 1 in 20 000 people develop an associated blood cancer in the UK each year, 40 per cent of the population have the chromosome 9 variant present. These findings however have confirmed that inheritance of the variant can contribute to a greater susceptibility of developing an MDP.
This genetic inheritance is highly evidenced in one of the three main MPDs, Polycythaemia vera (PV). Professor Nick Cross who led the research team says: “half of the cases of PV diagnosed each year are linked to an inherited genetic variant on chromosome 9. Whilst this risk is still very small it nonetheless confirms that individual susceptibility to acquiring cancer-causing mutations is linked to genetic inheritance.”
The discovery has been deemed and ‘important step forward’ in understanding MPD’s as it allows scientists to begin to understand why some people are predisposed to mutations that lead to cancer. The researchers now hope to use the newfound discovery to conclude how exactly the variant contributes to risk.
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Sources:
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