The effect of these mutations was also analyzed, and it was found that the alterations impact the number of chromosomes within cells.
Now, in animal models, it has been shown that when there are mutations in two copies of this gene– with one coming from each parent– the embryo ultimately dies.
Remarkably, though, the patient in this case study survived despite having mutations in both parental copies. Moreover, the individual lived a life that was as normal as possible while suffering from health problems.
This case is a first of its kind, and Miguel Urioste– the study’s co-author– detailed its significance.
“Academically, we cannot speak of a new syndrome because it is the description of a single case, but biologically it is,” he said.
Urioste did point out that there are cases of other genetic mutations in which the number of chromosomes within cells is altered.
“But this case is different because of the aggressiveness, the percentage of aberrations it produces, and the extreme susceptibility to a large number of different tumors,” he added.
And one of the most intriguing facts of this case pertains to the disappearance of cancer. More specifically, the patient developed five commonly aggressive cancers, but they actually vanished relatively easily.
The researchers hypothesized that the repeated production of altered cells generated a chronic and defensive-like response in the patient’s body.
“And that helps the tumors to disappear. We think that boosting the immune response of other patients would help them to halt tumoural development,” explained Malumbres.
This discovery alone– that the body’s immune system is able to unleash a powerful defensive response to fight against cells containing the wrong number of chromosomes– is groundbreaking.