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Explained: What Are Gene Mutations, And How Changes In Our DNA Affect Our Health

Gene mutations can ripple into everything from inherited diseases to cancer risk to how our bodies respond to drugs.

Learn what gene mutations are
Learn what gene mutations are with our ready explainer (ETV Bharat)
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By ETV Bharat Health Team

Published : March 17, 2026 at 10:22 AM IST

1 Min Read
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Understanding gene mutations today is about navigating a future where medicine becomes increasingly personalized. Advances in genomics such as inexpensive sequencing and CRISPR-based editing have moved mutations from the realm of discovery into the domain of decision-making. Sometimes, a mutation causes a significant alteration to a protein's structure, preventing it from performing its intended function. This can lead to serious health issues, diseases, or disorders.

Our genes provide the instructions for linking together amino acids to form proteins. Therefore, a change in the DNA sequence caused by a mutation can directly alter the amino acid sequence. When the amino acid sequence changes:

  • It can significantly affect the protein's overall shape.
  • Because a protein's structure determines its function, a change in shape often means the protein can no longer do its job correctly, or its function might even change!

We are now able not just to identify these variations, but to interpret them, predict outcomes, and in some cases, intervene in time to stop the mutation. The ethical questions about who gets tested, who gets treated, who gets to edit are as complex as the code itself, and understanding gene mutations is the first step towards addressing these questions. Find out what it means with our simple explainer.

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References:

https://www.etsu.edu/uschool/faculty/tadlockd/documents/bio_mutations_show_2019.pdf

https://www.cell.com/neuron/fulltext/S0896-6273(26)00013-9