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The largest atlas of human genetic mutations

2023-04-14T08:00:26.245Z


The largest atlas of human genetic mutations completed: based on the analysis of the tissues of hundreds of healthy donors, it allows for a better understanding of the molecular basis of conditions related to cellular malfunction (including aging) and paves the way for the possibility of diagnosing and treat many genetic diseases (ANSA)


The largest atlas of human genetic mutations completed: based on the analysis of the tissues of hundreds of healthy donors, it allows for a better understanding of the molecular basis of conditions related to cellular malfunction (including aging) and paves the way for the possibility of diagnosing and treat many genetic diseases.

The result is published in the journal Science by the American Oregon Health & Science University.



The new atlas allows you to have a

broad overview of the genetic alterations

that can arise in the course of life, as cells multiply and accumulate errors in DNA replication, creating a real

genetic mosaic

.

To reconstruct it, the researchers started from

54 tissues and cell types

taken from

948

deceased people who had donated their bodies to science.

Thanks to a new computational method that has made it possible to analyze the data obtained with massive RNA sequencing, it has been possible to trace a sort of developmental tree on which the onset of mutations in the various tissues of people has been mapped.



"This study reveals that

the human genome is more dynamic than we thought

", comments Giuseppe Novelli, geneticist of the University of Rome Tor Vergata. "It demonstrates in fact that a certain percentage of mutations that we thought arise during the formation of gametes (ova and spermatozoa) actually appear after fertilization and the formation of the zygote.

As the contribution of such mutations to human disease becomes increasingly apparent, this conclusion may well have clinical implications.

It also reminds us that

a genetic test is not a simple laboratory test

, but requires complex evaluations and analyzes such as the simultaneous study of multiple tissues of the same individual". The US research also shows that

many mutations arise systematically

and in a certain predictable sense

with the

, while

about 10% seems to be determined by an intrinsic cause

, linked to the genes themselves or to the influence of the environment.



"We've learned that

some tissues

, such as those in the

esophagus

and

liver

,

acquire many mutations

while

others

, such as the brain,

acquire fewer

", notes the first author of the study, Nicole Rockweiler. "This makes sense - she adds - because the esophagus and the liver are exposed to many toxins of environmental origin and their cells must transmit their message in a 'noisy' environment.

Even the few mutations in the brain make sense, because the brain is basically made up of cells that don't replicate themselves". All this information could have an impact in the future on the way many diseases are treated. "Today there are many technologies that allow us to modify the genome," concludes study coordinator Don Conrad. "It may become possible to correct mutations that we have acquired through bad luck or bad habits."

Source: ansa

All tech articles on 2023-04-14

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