genetic mutation
(Photo : madartzgraphics)

New research shows that two types of cell mutation present in the blood are making them more harmful than they already are. The research team at Cold Spring Harbor Laboratory has recently identified two types of cell mutations. These two types of cell mutations can enhance the effect of the other cells and develop a strain of a deadlier acute myeloid leukemia (AML).

Omar Abdel-Wahab of the Memorial Sloan Kettering Cancer Center collaborated with Adrian Krainer, a CSHL Professor. The two presented a detailed explanation of how the mutations of the IDH2 and SRSF2 genes built the unexpected partnership that gave birth to the worst form of the AML to date. 

In their report, the mutation of the IDH2 gene enhances the effect of the SRSF2 mutation preventing the maturity of red and white blood cells. Both types of cells are what every AML patient needs to fight the disease. The team is currently working on finding a way to make this so-called "partnership" stop, hoping to find a cure to one of the most potent forms of blood cancer. 

"We discovered such partnership while we were evaluating the data of patients from the Cancer Genome Atlas," said. Abdel-Wahab, an oncologist–haematologist. They found out that in the cases of patients who died of AML, both mutations were present. 

Knowledge of the two-cell mutation has been known before this research. However, what people knew was that both are involved in exhibiting symptoms of cancer. In most cases, however, what causes the symptoms may not necessarily be the cause of cancer. 

"A mutation in the cells of a sick patient does not necessarily show its direct connection to the disease," Krainer said. 

To find out if the mutations in the SRSF2 and IDH2 are indeed at work to develop AML, the team of Krainer and Abdel-Wahab worked together in Krainer's lab. Their detailed findings have recently been published in the journal, Nature. 

The SRSF2 gene was identified to cause errors in RNA splicing. The splicing process converts RNA to understandable instructions for particular cells in the body. Errors in this process could lead to serious cell malfunctions. At first, the researchers did not consider that the splicing could lead to AML as the mutations were only present in 1% of AML patients. However, further research showed that mutation occurs 11% of the time in AML patients. 

Further experiments in the lab revealed the severity of the splicing errors caused by SRSF2, which was further enhanced by the IDH2 mutation. This results in an even more defective set of blood cells. 

"In some way, these two defective genes become cooperative of each other," Krainer said. This interdependence has resulted in a lot of deaths, but knowledge of it will only lead to points of intervention.