E. Shyam P. Reddy: RNU2-2 mutation causes a more severe form of NDD than ReNU syndrome
E. Shyam P. Reddy, Professor and Director of the Cancer Biology Program, Department of OB/GYN at Morehouse School of Medicine, shared a post on LinkedIn:
“RNU2-2 is a type of small nuclear RNA (snRNA), part of the spliceosome complex responsible for processing pre-mRNA into mature transcripts. Unlike typical genes, RNU2-2 does not encode a protein but plays a key role in gene regulation. The new study reveals that mutations in this gene disrupt RNA splicing and gene expression during brain development.
‘Our identification of RNU2-2 mutations as a cause of NDDs (neurodevelopmental disorders) is particularly notable because it cements the biological significance of a class of small noncoding genes in NDDs,’ said Daniel Greene, PhD, first author and assistant professor of genetics and genomic sciences at Mount Sinai.
More severe than ReNU syndrome.
The team had previously identified RNU4-2 mutations as the cause of a related disorder known as ReNU syndrome. While both conditions share overlapping neurological symptoms, RNU2-2-related NDD is marked by a more severe epilepsy phenotype.
These findings expand the known landscape of genetic causes for early-onset intellectual and developmental disabilities.
Unlike many inherited disorders, the RNU2-2 mutations appear to arise de novo – they are not passed down from parents but instead occur spontaneously during development. This makes the discovery especially important for families with no prior history of similar conditions.”
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