(ORDO NEWS) — Doctors in Spain faced an extraordinary case: a 36-year-old patient was repeatedly diagnosed with malignant tumors in different parts of her body, but each time they disappeared on their own.
Now they have managed to uncover the secret of her incredible health, which turned out to be surprisingly sinister, because this woman should not have been born at all.
One woman living in Spain had poor health from birth: in early childhood she was first diagnosed with a cancerous tumor, then every few years a new sore “crawled out”, which disappeared by itself after some time.
In just less than four decades, 12 neoplasms appeared in the woman’s body, of which at least five were malignant.
No other person would have survived so many tumors of various types in different parts of the body even if the body or doctors were able to cope with, say, carcinoma, sarcoma would certainly finish off the weakened body.
However, this incredible woman survived all the hardships that fell on her and, despite a number of congenital pathologies like microcephaly, lives a relatively normal life.
To understand why the patient has such an incredible resistance to cancer, researchers from the National Center for Cancer Research (Spain) studied a blood sample taken from a woman, seeking to find “breakdowns” in the genes most often associated with hereditary cancer.
Surprisingly, they did not find any, but they found something more interesting: a mutation in the MAD1L1 gene, which in our body is responsible for the correct division of cells. In the case of a “breakage” of this gene, aneuploid cells appear containing the “wrong” number of chromosomes.
In particular, in almost a third of all blood cells in the patient, there were not 46 chromosomes, as in ordinary people, but less or more per chromosome.
Like almost any other gene, MAD1L1 is represented in our body by two copies, one of which was inherited from the father, the second from the mother.
On animal models, scientists have found that the “breakage” of two copies of genes at once leads to the death of the organism at the stage of the embryo.
However, a completely lively woman sat in front of them, in whom both MAD1L1 genes were mutated, “giving” her both terrible vulnerability and amazing resistance to malignant tumors.
The researchers suggest that constantly encountering cells with the wrong number of chromosomes, the woman’s body was always in a state of “full combat readiness”, so the appearance of another “wrong” cell – cancerous – led to a super-aggressive immune response, which destroyed the emerging tumor.
While the experience of the amazing patient is unlikely to be of use to other people who have at least one MAD1L1 gene, the fact that a chronically active immune system is able to destroy cells with an abnormal number of chromosomes is an important discovery that could lead to new ways to treat cancer.
Since aneuploidy is characteristic of cancer cells, in the future, scientists will be able to develop a way to “set” the patient’s immunity on them so that the body can cope with a dangerous disease.
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