Molecular Medicine Israel

Identification of mutations linked to leukemia that may predispose families to the disease could ultimately improve diagnosis and treatment

Nature Genetics, 1012–1017 (2011); doi:10.1038/ng.913.
Hahn, C.N., Chong, C.-E., Carmichael, C.L., Wilkins, E.J.,Brautigan, P.J.,Li, X.-C.,Babic, M., Lin, M., Carmagnac, A., Lee, Y.K.,Kok, C.H., Gagliardi, L., Friend, K.L., Ekert, P.G., Butcher, C.M. et al.
“Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia”.

Myelodysplastic syndrome (MDS) is a disorder of blood cell development that can progress to a type of leukemia called acute myeloid leukemia (AML). AML and MDS can run in families, with affected individuals getting one or both diseases Geneticists had previously found a link between two genes and the familial MDS–AML syndrome, but many families still had unidentified causal genes.

Now, an international research team, led by Hamish Scott of the Centre for Cancer Biology, Australia, has found mutations in the gene GATA2 in four families with the MDS–AML syndrome. The team sequenced the DNA of 50 genes in the families that they suspected influence their predisposition to cancer.

Scott and colleagues found that individuals with leukemia in the families always had GATA2 mutations. However, all individuals with GATA2 mutations did not necessarily have disease. This suggests that those individuals may develop disease at some later time, or there may be environmental or genetic factors in those individuals that prevent disease onset.

The GATA2 mutations seemed to inactivate the GATA2 protein, which prevented it from binding to DNA and caused changes in gene expression.

The researchers note that pinpointing these mutations is key to improving early intervention options and treatment.





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