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A disorder in genes predisposes certain people to developing leukemia
The defect was found in GATA2 gene which controls the transition of blood forming cells to white blood cells. This raises the risks for people carrying the mutation to develop myelodysplasia and acute myeloid leukemia. These two diseases are a form of blood cancer.
The researchers studied four families that weren't related one to another. Over generations, all the four families had relatives that suffered from myeloid leukemia and during the observation, the persons' disease occurred in the period between adolescence and the age of 40, depending on the case.
The first time when researchers thought about a possible connection between gene defect and leukemia, appeared in 1992, when the doctor of a patient at UW Medical Center discovered that the patient had several cases of myeloid leukemia in the history of the family.
Researchers managed to identify the gene that causes the mutation only eighteen years later and since then, have identified more than 20 families and individuals that carry this defect gene.
The myelidosplastic syndrome is a form of preleukemia which occurs to the organism's impossibility to produce sufficient myeloid for the blood cells. The patients suffering from this disease have a form of severe anemia and require frequent blood transfusions.
This study is the result of an international partnership between medical centers and families from Canada, Australia and the United States. For researchers is a very important discovery because in this way they can offer patients the possibility of performing tests to check the existence of this defect in the gene and keep it under control before the symptoms of the disease occur. A question arisen among researchers as to why for the blood cancer was so hard to discover the mutations of the gene unlike other forms of cancer where it could be discovered a cause of the development of the disease.
Currently, researchers are working to discover a treatment for people with this gene mutation that could help them keep the disease under control.
The results of the study have been published in the "Nature Genetics" journal
