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The University of Southampton

UK study identifies key gene linked to blood disorders

Published: 5 July 2010

Researchers from the University of Southampton working in Salisbury have identified a key gene, which, if mutated, can cause serious blood disorders. The findings shed light on how these disorders develop and could lead to the design of new drugs for patients in the future that specifically target the genetic abnormality.

Using new genome scanning technology, the scientists examined the DNA of individuals with two groups of blood disorders - myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS). They found that up to 12 per cent of patients with the different blood disorders had tiny mutations in one important gene, called ‘EZH2’.

The particular region of DNA on which it was found (chromosome 7) was known to be prone to abnormalities in blood disorders, but this is the first time that a clear ‘target gene’ in this important region has been identified. The presence of mutations in the EZH2 gene also appeared to be a sign of poor prognosis for patients with these disorders.

The study, which was funded by the blood cancer charity Leukaemia & Lymphoma Research, is published in the journal Nature Genetics on 4 July.

MPN and MDS originate in the bone marrow and these conditions are usually characterised by the overproduction or underproduction, respectively, of red and white blood cells. Both disorders can be subdivided into several subtypes, some of which can be fatal. Current treatments can be limited and some patients may also go on to develop leukaemia.

EZH2 is an important ‘master regulator’ gene that influences how blood cells are produced. The researchers, from Wessex Regional Genetics Laboratory in Salisbury believe that any damage to its function is likely to have a major effect of blood cell development and lead to uncontrolled cell division.

Blood disorders are diagnosed in over 5,000 people in the UK every year and although more common in the elderly they can affect people of at any age. While there are many different subtypes of the disorders, the EZH2 gene mutation was found to play a role in roughly 12% of specific disease subtypes.

Nick Cross, a professor of human genetics in the University’s School of Medicine, who led the research team, says: “The identification of this key genetic mutation and its connection with a significant percentage of cases provides a new and unexpected insights into in the development of blood disorders. More work needs to be done but it is certainly possible that in the future this information could be used to guide treatments and design new drugs to correct genetic mutations.“

Dr David Grant, Scientific Director at Leukaemia & Lymphoma Research, comments: “This is an exciting piece of research. Unfortunately there are still limited treatment options available for blood disorders so identifying the key genes that play a role in their development is an important step forward in our understanding.”

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