A 36-year-old affected by various inherited genetic mutations was previously considered incompatible with life. Researcher: “We don’t know how she managed to overcome all her illnesses”
In 36 years she was diagnosed with twelve different types of cancer in different parts of the body, five of them malignant, the first in childhood. However, one Spaniard managed to overcome all her health problems, so much so that she became an object of study. His case was published in the prestigious journal Science Advances. “We still don’t understand how this person could have developed in the embryonic stage and how he managed to overcome all his diseases,” admits biologist Marcos Malumbres of the National Cancer Research Center (Cnio), one of the study’s coordinators .
Mixture of genetic mutations
In fact, the woman is a carrier of various hereditary genetic mutations linked to the MAD1L1 gene, which codes for cell division previously considered incompatible with life, and also presents other abnormalities such as skin spots and microcephaly. The patient had mutations on both copies of the MAD1L1 gene, both the one obtained from the mother and the one transmitted from the father. A similar condition had previously only been observed in laboratory mice and had already led to their death in the embryonic stage, but had never been found in humans. Many family members of the woman also have mutations in the MAD1L1 gene, but only in one of the two copies inherited from the parents.
The immune defence
The researchers believe that “continued production of altered cells elicited a chronic immune response against these cells, which ultimately helped the tumors disappear,” Malumbres says. It follows that, at least in this case, our immune system is able to defend itself against cells with an altered number of chromosomes. The study could therefore reveal new early detection techniques and new therapies to stimulate the immune system against tumors, since 70% of tumors have abnormalities in the number of chromosomes.
November 3, 2022 (change November 3, 2022 | 11:48)
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