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Tumor-Suppressor Gene Could Also Prevent Birth Defects

Scientists knew this gene helps fight cancer—but until now, they didn't know it could also help prevent some birth defects.

August 23, 2019

The human body is an incredibly complex puzzle made up of a variety of smaller, equally complex pieces, also known as genes. Genetic coding is responsible for everything from height and eye color to personality traits and which diseases a person is most susceptible to. 

P53 is a protein-coding gene known for suppressing tumors. However, recently published scientific research indicates that the gene could also prevent birth defects such as spina bifida

Continue reading to find out: 

  • More about p53
  • Details about the study, and what its results mean

P53: What is it, and why is it important?

According to Science Daily, p53 is a gene that is “famous throughout scientific literature and history for its role in protecting us from cancer.” This is because p53 recognizes and works to repair abnormal cell structure, which means it suppresses tumors and helps prevent cancer from forming or spreading. 

P53 repairing damaged DNA
P53 has three major functions: stopping growth, mending damaged DNA, and killing mutated cells. Image courtesy of The Truth About Cancer

Healthy cells have low levels of p53, but cancerous or otherwise malignant cells trigger an increase in p53. However, too much p53 can be dangerous and accelerate aging because an excess number of cells are dying.    

The Study: What was discovered, and what does it mean?

Researchers from both the Institute of Medical Research and the Peter MacCallum Cancer Centre collaborated to examine the role of p53 in “X-chromosome inactivation,” which is a molecular process only experienced by females. 

(X-chromosome inactivation is the process by which females deactivate one of their two X-chromosomes. The deactivated chromosome is compacted and most of its genes are not transcribed.) 

The study found that p53 is “surprisingly critical for the development of the neural tube in female embryos.” Because the spinal cord and brain are formed in the neural tube, its development is particularly significant to the health of the future baby. 

An improperly developed neural tube can result in birth defects such as spina bifida, in which the spinal column is incomplete or malformed, and anencephaly, in which the brain and skull do not fully form. The former is likely to cause nerve damage and paralysis, and the latter usually results in a still-birth or death shortly following the birth. 

From left to right: normally developed fetus, fetus with anencephaly, and fetus with spina bifida.
From left to right: normally developed fetus, fetus with anencephaly, and fetus with spina bifida. Image courtesy of Medscape

Through their analysis, the researchers determined “how p53 influenced the function of genes required for fostering the production of healthy neural tube cells in the female embryo.” 

The results of the study might also indicate why females are more likely than males to be born with neural tube defects. 

Woman works in lab
Increasing folic acid intake during the early stages of pregnancy is thought to help prevent neural tube defects. 

Associate Professor Anne Voss says, “Females have two copies of the 'X' sex chromosome, while males only have one copy. In order to maintain health in females, one of these X chromosomes must be inactivated in cells early on during development. If this inactivation does not occur efficiently, the neural tube will not form properly. Previous research indicated that p53 played a role in normal neural tube development, but it had never been shown exactly how this worked until now.”

Outside of p53 levels, other factors may put you more at risk for having a baby with a neural tube defect, including: 

  • If you take anti-seizure medication
  • If you’re obese
  • If you have diabetes 
  • If you use opioids early in your pregnancy
  • If you or your partner has had a baby with a neural tube defect before
  • If you or your partner has a neural tube defect

Conclusion: P53 Might Be Even More Dynamic of a Gene Than We Originally Thought

The study’s findings suggest that p53 has a biological role beyond suppressing tumors—which is a pretty hefty role to begin with! 

Because p53 is key to neural tube-development in females, the gene could have additional unknown functions that we have yet to uncover. Furthermore, this discovery increases our knowledge about neural tube defects and the reasoning behind them, which is an important step in treating them or maybe even preventing them from occurring.  


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