Case studied by science

Case studied by science

A 36-year-old male with two different genetic mutations that have hitherto been considered incompatible with life. Researchers: “We do not know how she managed to overcome all her diseases”

During the 36 years they were diagnosed
Twelve different tumors
In different parts of the body, five of them are malignant tumors, and the first is already in childhood. Nevertheless, a Spanish woman managed to overcome all her health difficulties, so much so that she became an object of study. for him The case was published in the prestigious magazine science progress
. “We still don’t understand how this person might have developed during the embryonic stage, nor how he was able to overcome all of his illnesses,” admits biologist Marcus Malombris of the National Cancer Research Center (Cnio), one of the study’s coordinators.

A combination of genetic mutations

Women, in fact, are different carriers genetic mutations It is linked to the MAD1L1 gene, which codes for cell division, which has so far been considered incompatible with life, and also has other changes such as skin spots and microcephaly. was sick Mutations in two copies of the gene Dirhams 1 for 1, both received from the mother and passed on from the father. A similar condition has so far only been seen in lab mice, and it has already led to their death in the embryonic stage, but it has never been found in humans. Many members of a woman’s family also have mutations in the MAD1L1 gene, but only in one of two copies inherited from the parents.

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immune defense

The researchers believe that the “continuous production of altered cells generated a chronic defense response against these cells, which eventually helped the tumors disappear,” Malombris says. It follows that, at least in this case, our immune system is able to defend itself against cells with a variable number of chromosomes. So the study can point to new early diagnosis techniques e New therapies to stimulate the immune system against tumorsgiven that 70% of tumors have chromosomal abnormalities.

3 Nov 2022 (change on 3 Nov 2022 | 11:48)

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