Spanish scientists decided to dig a little deeper to find out why a woman who had 12 different tumors before the age of 36 was so prone to a strange case. Cancer.

The 36-year-old woman was first diagnosed with cancer when she was two years old. At the age of 15, she was diagnosed with cervical cancer.

At the age of 20, a salivary gland tumor was surgically removed. A year later, she underwent further surgery to remove the low-grade sarcoma.

And, as she moved into her 20s and 30s, several different tumors were discovered.

She had a total of 12 tumors, including five that were malignant.

With the consent of the woman and her family, an international team of researchers led by Spain’s National Cancer Research Center took blood samples and used single-cell DNA sequencing to look for genetic mutations in thousands of cells.

The researchers found something strange; This woman had the same mutation that made her more susceptible to cancer.

She had a mutation in both copies of the MAD1L1 gene, which is not known in humans.

The MAD1L1 gene is responsible for a key piece of machinery that helps align chromosomes before cell division. MAD1L1 was previously suspected to play a role in tumor prevention.

Mutations in the gene are not known – surely members of the woman’s family carry one. But this is the first time that both copies of the gene have been found to carry this particular mutation.

A double (or homozygous) mutation of the MAD1L1 gene. lethal to mouse embryosSo it is a very surprising discovery in humans.

He was creating a mutation in this woman Cell proliferation problem and creating cells with different numbers of chromosomes. 30-40 percent of her blood cells had an abnormal number of chromosomes.

Humans normally have 23 pairs of chromosomes in the nucleus of every cell in our body.

Chromosomes They are compact packages of DNA that come in an ‘X’ shape and are formed when a cell is about to undergo mitosis or cell division.

In each pair of chromosomes, one is from the person’s mother and the other is from the person’s father.

People with a rare condition called ‘mosaic variegated aneuploidy’ (MVA) have different chromosomes in different cells in mosaic-like patches of different colours. This situation may be the cause Various genetic mutations12 including the one seen in a woman with cancer.

People born with MVA most of the time Growth retardation, microcephaly (if the child’s head is smaller than usual), intellectual disability and other birth defects. They often are Prone to cancer.

In this case, the woman had no mental impairment and was living a relatively normal life (considering the number of cancer treatments she had undergone).

“We still don’t understand how this individual developed in the embryonic stage or was able to overcome all these diseases.” He says. This study was conducted by molecular biologist Marcos Malumbres, head of the Cell Division and Cancer Group at Spain’s National Cancer Research Center.

When playing the role of aneuploidy It is not well understood in cancerWe know around 90 percent of tumors Cancer cells have extra or missing chromosomes.

And we know that high levels of aneuploidy are associated with this worse results In cancer.

The study found that people with aneuploidy, like the woman in the case, had an “enhanced immune response,” which the researchers said “may provide new opportunities for the clinical management of these patients.” Tell them.

This paper was published in Advances in science.

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