This gene is essential in the process of cell division and proliferation. Researchers analyzed the effect of the mutations detected and concluded that they cause alterations in the number of chromosomes in the cellsall cells in the human body have 23 pairs of chromosomes.
In animal models, it has been observed that when there are mutations in both copies of this geneeach coming from one parentthe embryo dies.
To the astonishment of the researchers, the person, in this case, has mutations in both copies but has survived, living as normal a life as can be expected of someone suffering from ill health.
Why Did the Tumors Disappear?
One of the facts that most intrigued the research team was that the five aggressive cancers developed by the patient disappeared relatively easily. They hypothesize that the constant production of altered cells has generated a chronic defensive response in the patient against these cells, and that helps the tumors to disappear.
The discovery that the immune system is capable of unleashing a defensive response against cells with the wrong number of chromosomes is. One of the most important aspects of this study may open up new therapeutic options in the future.
Single-Cell Analysis for Early Cancer Diagnosis
To study the patient and related family membersseveral of whom have mutations in the MAD1L1 gene, but only in one of the copiesthe scientists used single-cell analysis technology, which provides a wealth of information that was unthinkable just a few years ago.
It involves analyzing the genes of each of the blood cells separately. There are many different types of cells in the sample and usually, all of them are sequenced, but by analyzing thousands of these cells separately, one by one, they can study what is happening to each specific cell, and what the consequences of these changes are in the patient.
Based on this finding, the researchers propose that single-cell analysis can be used to identify cells with tumor potential long before the appearance of clinical symptoms or markers observable in analytical tests.
The study of this unique case opens up a way to detect cells with tumor potential well in advance of clinical tests and diagnostic imaging. It also provides a novel way to stimulate the immune response to a cancerous process.
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