A Duke University study appearing in the journal Cell Reports shows that a gene that has been associated with learning disabilities in humans also plays a vital role in cells response to environmental stress.
Extreme temperatures, toxic substances, and mechanical shocks can damage cells. They go through a range of changes called the cellular stress response.
The senior author on the paper said that every cell is exposed to harmful substances in their environment and that they have to deal with it all the time.
During the stress response, cells press pause the genes related to their normal housekeeping activities and turn on genes related to crisis mode. If a house is flooded, they put down the window cleaner, turn off the TV, and run to close the windows, patching holes and throwing away the furniture.
The team saw that a group of proteins was being modified inside the cells while studying mechanisms related to the cells health and their response to stress. They discovered that the master regulator of this process is a gene called rad6.
When there is a stressor, cells need to change what they produce.
It is not just any random gene. It can be found in almost all multicellular organisms. It is known for its association with a set of symptoms called Nascimento Syndrome, which include severe learning disabilities.
Nascimento Syndrome, also called X-linked intellectual disability type Nascimento, is a poorly understood disease. It was officially described in 2006 and gives scientists an early clue to its genetic causes. Affected individuals have learning disabilities, facial features with wide-set eyes and a depressed nose bridge, and other symptoms.
Like many other genes, Rad6 does more than one thing. It is a multiuse tool. Silva and his team are able to add a new piece to the puzzle of Nascimento Syndrome by discovering an additional function.
It is still a big question as to how a genetic abnormality can lead to such a drastic syndrome in humans.
If we get a better understanding of how this gene works, we can try to interfere with it to help these patients have a better outcome.
How does one look at what happens when a cell is stressed? There was a fair amount of cooperation. Researchers from the Duke Biochemistry department and the Pratt School of engineering helped Sim and Silva gather all the help they needed.
Silva said that they used a whole set of advanced techniques.
He said it was cool to be in a place like Duke, and that it increases the impact of a study and our ability to do a more complete work.
More information: Vanessa Simões et al, Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes, Cell Reports (2022). DOI: 10.1016/j.celrep.2022.110860 Journal information: Cell Reports Citation: Gene linked to severe learning disabilities governs cell stress response (2022, May 27) retrieved 28 May 2022 from https://phys.org/news/2022-05-gene-linked-severe-disabilities-cell.html This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.
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