The team has discovered a cellular mechanism connected to microencephaly, a condition where a baby’s head is smaller than expected. Nonsense-mediated RNA decay, also known as NMD, is a molecular mechanism that breaks down potentially defective messenger RNAs (mRNAs), which are genetic material that provides instructions for making proteins in the body. Problems with the NMD pathway can result in neurological disorders, immune diseases, cancers, and other health issues. Mutations in human NMD regulators have been observed in neurodevelopmental disorders such as autism and intellectual disability..
A study by Sika Zheng, a professor at the University of California, Riverside, has shed light on why NMD mutations are more common in neurodevelopmental disorders. Published in Neuron, the study explains how NMD regulation impacts brain size and can lead to microcephaly, a condition characterized by an abnormally small head.
The research indicates that preserving neuronal NMD function is crucial for normal brain development.It is crucial to support early brain development in order to prevent microcephaly. Zheng suggests that adjusting NMD targets could potentially be used as a treatment for microcephaly and other related neurodevelopmental diseases.
The study outlines the important roles of NMD in brain development and how it works on a mechanistic level. It also, for the first time, shows the connection between regulating mRNA decay and controlling brain size. Furthermore, it uncovers the complex relationship between NMD and the well-known tumor suppressor gene, p53, which could indicate new connections between NMD and cancer.
This research received funding from the National InstituHealth and the California Institute of Regenerative Medicine
