Scientists have identified the leukemia gene

The likelihood of leukemia or myelodysplastic syndromes can be predicted by the presence or absence of mutations in the GATA2 gene.

An international team of researchers from Australia, the United States and Canada reports that she managed to find a mutation that could cause hereditary acute myeloid leukemia and myelodysplastic syndromes. A report on the work done by scientists published in the journal Nature Genetics.

Myelodysplastic syndromes mean the inability of the bone marrow to produce a sufficient number of normal blood cells of a particular species (either the cells are small, or they perform poorly their function, or both). Patients suffer from anemia and need constant replenishment of the blood cell stock with the help of donor blood. In every third case, the myelodysplastic syndrome turns into acute myeloid leukemia, when the bone marrow begins to intensively produce abnormal blood cells, and they gradually displace the healthy ones.

For the first time the assumption about the hereditary nature of these diseases appeared in scientists in the early 1990s, when it was noted that members of one family had both myelodysplastic syndrome and myeloid leukemia complicated by low resistance to bacterial infections. The search for a specific culprit in molecular geneticists took 18 years; more than 20 families took part in the study.

The culprit was the gene GATA2. In a number of families, mutations in it significantly increased the risk of leukemia; other carriers of the damaged gene were extremely susceptible to bacterial, viral and fungal infections due to lack of blood in normal immune cells. Intrigue for the results obtained is added by the fact that mutations in GATA2 also lead to lymphedema, a violation of the circulation of fluid in the tissues and, as a consequence, swelling of the extremities (elephant leg). In addition, in some cases, violations in this gene cause deafness. Myelodysplastic syndromes are usually associated with a loss of a chromosome site with this gene: mutations in GATA2 have been detected in people with "normal", non-hereditary leukemia.

As a cause of the onset of blood cancer, previously two more genes were indicated. Without denying these data, the researchers tried to concentrate on other causes of leukemic disorders and eventually found the third - GATA2. Mutations associated with other types of cancer, such as breast cancer, are easy to find, and the search for similar mutations in the case of cancer of the blood is extremely difficult, and today there is very little information on their genetic factors. What is especially inopportune, given the high prevalence of leukemia.

Researchers have yet to find out how violations in one gene lead to such diverse manifestations, beginning with problems in the bone marrow and ending with deafness. Nevertheless, from now on, physicians can quite reliably predict the likelihood of leukemia due to the presence or absence among family members of this kind of genetic mutations.

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