Woman who was diagnosed with 12 tumors in her lifetime has a unseen genetic mutation
By: April Carson
A woman developed 12 tumors — seven benign and five cancerous — before her 40th birthday. Medical researchers recently discovered why she's so prone to the abnormal growths: She carries a set of genetic mutations never seen before in humans. These discoveries may lead to groundbreaking treatments for others who suffer from similar conditions.
According to a new report published Wednesday in the journal Science Advances, the 36-year-old woman has two mutated copies of a gene called MAD1L1. The gene is responsible for creating a protein called MAD1 that plays an important role in cell division.
It is not clear how the woman's genetic mutation leads to the development of tumors. However, the researchers believe that the mutated MAD1 protein interferes with the normal function of other proteins involved in cell division. This disruption may cause cells to divide uncontrollably, leading to tumor growth.
When one cell splits in two, it first duplicates all its DNA and then packages the genetic material into chromosomes. The chromosomes line up along the cell's midline and get pulled in half; that way, when the mother cell splits, half of the DNA goes to each daughter cell. The MAD1 protein helps ensure that the chromosomes line up correctly during this process, so all cells end up with 23 pairs of chromosomes, according to UniProt.
Mutations in MAD1L1 can cause a protein to be produced that doesn't function properly. As a result, the chromosomes don't line up correctly during cell division, which can lead to the development of tumors.
The woman has two mutant copies of MAD1L1, which is deadly for laboratory mice, but she survived into adulthood. However, she has been very susceptible to tumors throughout her life and developed her first cancerous tumor at age 2 and her most recent one at age 28.
"We were perplexed as to how this woman could have survived with this mutation," co-senior author Marcos Malumbres, head of the Cell Division and Cancer Group at the Spanish National Cancer Research Center (CNIO) in Madrid, told El País. "There had be something else that saved her from death," said Malumbres according to a Live Science translation.
The patient's blood analysis showed that 30% to 40% of her circulating blood cells have an abnormal number of chromosomes. This is a condition called aneuploidy, which is also found in cancer cells.
"We thought that if a person has such a high number of aneuploid cells, she should have died long ago," Malumbres told El País. "But she's healthy and has given birth to three children."
According to the National Cancer Institute, about 90% of cancerous tumors carry cells with extra or missing chromosomes; however, scientists are still investigating exactly how this genetic quirk contributes to cancer's growth and spread. In their report, the researchers noted that other genetic mutations besides those affecting MAD1L1 can cause people to carry cells with different numbers of chromosomes. In some patients, but not all, this seems to raise the risk of cancer.
The patient has had cancer five times total, but every instance was treated rather easily. The last tumor was removed in 2014, and she hasn't gotten cancer since then. The researchers attribute this to her one-of-a-kind immune system.
MAD1L1 isn't the only gene that scientists have found to be associated with an increased cancer risk. In recent years, researchers have identified several other genes that may play a role in cancer development. However, MAD1L1 is the first gene to be linked specifically to a higher risk of multiple tumors.
The patient's cancertreatment responded well to chemotherapy, radiotherapy and surgeries because of the immune system's defensive response to abnormal cells. According to the team's findings, when there are cells with an abnormal number of chromosomes, it triggers a defensive response in other typical 23-paired cells. These drove inflammation throughout her body by releasing specific molecules and substances. So basically, the immune system knows how to find and destroy cancerous tumors as they come up.
The researchers believe that this knowledge can be used to help create new immunotherapies that can target and kill cancer cells. These therapies would work by targeting the MAD1L1 gene, which is present in all 23-paired chromosomes.
"We believe that the patient's chronic defense response against the altered cells is what helped the tumors to disappear," said Malumbres in a statement. The team wishes to study the woman's immune system further to see if they could recreate a similar response in other cancer patients.
Malumbres believes that enhancing the immune responses of other patients would assist them in impeding tumour growth. Ideally, this treatment would be like existing immunotherapies created to improve the immune system's cancer-killing capabilities.
"This is still at a very preliminary stage, but the possibilities are great," said Malumbres. "We think this could have implications for breast cancer and potentially other tumour types as well."
The team wishes to study the woman's immune system further to see if they could recreate a similar response in other cancer patients. Malumbres believes that enhancing the immune responses of other patients would assist them in impeding tumour growth. Ideally, this treatment would be like existing immunotherapies created to improve the immune system's cancer-killing capabilities.
How To Reprogram Your DNA By Billy Carson
About the Blogger:
April Carson is the daughter of Billy Carson. She received her bachelor's degree in Social Sciences from Jacksonville University, where she was also on the Women's Basketball team. She now has a successful clothing company that specializes in organic baby clothes and other items. Take a look at their most popular fall fashions on bossbabymav.com
To read more of April's blogs, check out her website! She publishes new blogs on a daily basis, including the most helpful mommy advice and baby care tips! Follow on IG @bossbabymav
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