A 36-year-old man develops tumors due to a rare gene mutation. But the mutation also protects them because they produce special defense cells.
The anonymous 36-year-old woman has already survived a dozen different cancers – unbelievable. The fact that she survived, according to scientists, could take the secret of curing cancer a step further. The patient had her first tumor as a child. Every few years since then, a new tumor has formed in different parts of her body. Of the 12 tumors known to doctors, at least five were malignant – developing in her brain, cervix and colon.
Spanish scientists monitoring her condition say her immune system is “extraordinary” in fighting cancer. He is believed to be the only person in the world with a genetic anomaly that represents a double-edged sword. We are talking about two mutations on the MAD1L1 gene. A gene is responsible for cell division and reproduction. Mutations in this gene affect how human cells reproduce. As a result of these mutations, women are more likely to develop unwanted tissue growth that can lead to cancer.
The first patient is treated with anti-cancer pills
Danger and salvation at the same time
Interestingly, the same mutation that causes them to get sick so often also protects them from the disease. Your body produces lymphocytes (immune cells) at a rapid rate, and identical copies of the immune cells carry mutations that make them extremely effective at fighting cancer. Each of their lymphocytes has an abnormal number of chromosomes, making them more effective against tumor growth. As a result, their bodies also easily fight cancer and tumors.
a disease without a name
Her condition is so rare that it has no name. The person also has skin tags, microcephaly (a condition where the baby’s head is much smaller than normal), and other physical problems. Despite this, he lives a relatively normal life. When the patient first visited the Familial Cancer Clinical Unit of the Spanish National Cancer Research Center (CNIO), a blood sample was taken to sequence the genes most commonly involved in hereditary cancer, but no change was detected. The researchers then analyzed the woman’s entire genome and found mutations in a gene called MAD1L1.
A team from the CNIO in Madrid has now published a report on this person’s case. The study was published in the journal Science Advances.
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