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Understanding genetic mutations may help in understanding fertility

How wonderful would it be to be able to know through the amount of gene mutations found in humans what your lifespan could be, whether you are female or male? And even the amount of time you will be fertile if you are female?

December 4, 2020
Alisha Chunara

What are genetic mutations?

Microscopic image of a strand of DNA with a section of it highlighted in red
Genetic mutations in the DNA can significantly alter the overall genetic makeup of humans, therefore causing unique features in humans. Image courtesy of Genetic Literacy Project.

Gene mutations are permanent alterations in some DNA sequences that make up various genes in a way that the sequences differ from other sequences found in most people. They can range in size and they can affect anywhere from a single DNA building block, referred to as a base pair to large segments of chromosomes that include multiple genes.

Gene mutations can be classified in two major ways:

  1. Hereditary mutations are inherited from a parent and are present throughout a person’s life in nearly every cell in the body. These mutations are also called germline mutations because they are present in the parent’s egg or sperm cells.
  2. Acquired (or somatic) mutations occur at some time during a person’s life and are present only in some certain cells, not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if an error is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed to the next generation.

Genetic changes that are described as de novo, or new mutations can be either hereditary or somatic. There are cases where mutations occur in a person’s egg or sperm cell but are not present in any of the person’s other cells, and in other cases, mutations can occur in the fertilized egg shortly after the egg and sperm cells unite. These de novo mutations may explain genetic disorders in which an affected child has a mutation in every cell in the body but the parents do not, and there is no family history of the disorder.

Now that you are knowledgeable about genetic mutations, you are better prepared to understand the study. 

What did the study find?

Microscopic image of DNA sequencing
The findings of the study conclude that figuring out the amount of genetic mutations in each human is instrumental in figuring out each human’s future in terms of wellness and health. Image courtesy of nature.

A recent study conducted by University of Utah Health scientists that was published online in the journal Scientific Reports analyzed how differences in the rate that genetic mutations increase in healthy young adults could help foretell the remaining lifespan in both sexes and the remaining years of fertility in women. This study, which is believed to be the first of its kind, found that young adults who obtained fewer mutations over time lived about five years longer than those who acquired them more quickly. The researchers thereby deduced that this discovery could someday lead to the development of interventions to slow the aging process.

The scientists were able to come up with this conclusion by analyzing blood DNA sequences from 61 men and 61 women who were grandparents in 41 three-generational families. The researchers discovered that mutations began to arise at an accelerating rate during or soon after puberty, suggesting that aging begins in the period of adolescence. After adjusting for age, the scientists then figured out that individuals who slowly accumulated genetic mutations were likely to live around five years longer than those who accumulated genetic mutations more rapidly.

In addition, researchers found that women who were found to have the highest mutation rates had strikingly fewer live births than other women and that they were more likely to be younger when they gave birth to their last child. Therefore scientists inferred that the high rate of mutation was affecting their fertility. 

With this discovery found by scientists, scientists now have the initiative to undertake the development of novel medical interventions. These interventions can help to restore and repair the DNA of humans and other aspects of the human body that help maintain homeostasis back to what they were before pubescence. That way, humanity can see the possibility of people living and staying healthy much longer.

Photo of a mother, a daughter, and a grandmother smiling
Imagine a future for humanity in which each human has a concrete chance of slowing the aging process. Image courtesy of University of Utah Health.

The future of medicine and the maintenance of fertility is looking a little brighter with the discoveries made by the University of Utah Health scientists concerning the health and wellbeing of humans.


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