Understanding the Disease and Its Cause
Some babies are born with serious brain development problems, like Pontocerebellar Hypoplasia type 1 (PCH1), which causes weakness, movement issues, and intellectual disabilities.
These problems are linked to mutations in genes related to the RNA exosome, a complex in cells that helps process and remove RNA.
These kinds of diseases are called RNA exosomopathies and mostly affect brain development.
Why Yeast Is Useful for Research
The RNA exosome was first discovered in yeast, a simple organism that’s easy to grow and study in labs.
Researchers added human disease-causing mutations into yeast genes to see their effects.
This method helps scientists study how these mutations affect RNA processing and possibly test treatments more easily.
What the Studies Found
The mutations mainly affected certain types of RNA, especially non-coding RNA, and disrupted ribosome production (important for making proteins).
Each mutation had its own unique effect, helping explain why different patients show different symptoms.
Researchers proved these mutations directly damaged the RNA exosome.
Building a Humanised Yeast Model
Scientists replaced parts of yeast genes with human or mouse versions, successfully in 6 of 9 core genes.
They introduced known harmful mutations into this model to test their effects.
This showed clearly which mutations were harmful and how they worked, creating a new way to screen disease-related gene changes and possibly test drugs in the future.
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