Silet mutations that speak!

Silet mutations that speak!

HomeCelulin: science for everyoneSilet mutations that speak!
Silet mutations that speak!
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We talked about people who are healthy but carry mutations that should make them sick. Are there harmless but disease-causing mutations? Well, we don't know yet, but what we do know is that synonymous mutation, so mutations that change the DNA and messenger RNA but don't change the protein sequence, can impact protein functions.
In a study carried out on the bacterium Escherichia coli, scientists observed that mutations that do not affect the amino acid sequence impact the function of the protein. How? These mutations affect how quickly proteins are translated or synthesized and organized into a 3D structure. Ultimately, even if the protein is the same, the structure is impacted and activity is reduced. This happens because as the protein is produced, it is organized or folded in a chronological choreography.
Biology always surprises us: sometimes mutations can be compensated for and do not generate disease, and sometimes a mutation that should not produce a clear effect is deleterious. #mutations #genomics #medicine #biology #scienceeducation

https://www.nature.com/articles/s41557-022-01091-z

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