Current Events Current Affairs Analysis
Researchers at Emory University and the University of Texas Health Science Centre have shown that mutations causing brain defects in humans also produce similar effects in budding yeast (Saccharomyces cerevisiae), a simpler eukaryotic organism.
What was discovered?
These mutations affect acellular complex called the RNA exosome, which plays a critical role inRNA processing, surveillance, and degradation.
This reveals the potential to useyeast as a model organismfor studyinghuman neurological disorders, particularly those related toRNA exosome dysfunction.
What is RNA Exosomopathies?
RNA exosomopathiesare disorders caused bymutations in genes coding for RNA exosome components.
These disorders primarily lead tobrain maldevelopment, affecting structures like theponsandcerebellum.
A key example isPontocerebellar Hypoplasia Type 1 (PCH1), which results insevere motor, cognitive, and developmental impairmentsin infants.
Role of the RNA Exosome
TheRNA exosomeis amulti-protein complexdiscovered in yeast in 1997.
It is responsible for:
oProcessing,surveillance, anddegradationof different types ofRNA molecules.
oMaturation ofribosomal RNA (rRNA)– essential for buildingribosomes.
oElimination of faultymessenger RNA (mRNA)and regulation ofnon-coding RNAs (ncRNA).
Experimental Findings (Study 1 – JournalRNA)
Researchersintroduced human disease mutationsinto corresponding yeast genes.
Founddefectsin:
oRNA surveillance
oRibosome production
oProtein synthesis
Each mutation had adistinct molecular signature, explaining thevaried clinical symptomsin patients.
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