How cells clear faulty gene messages that can affect brain development and autism
Post-transcriptional gene regulation by the exon junction complex
This project explores how cells detect and remove broken gene messages that can harm brain development, which may matter for people with developmental disorders like autism.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project ID | NIH-11307096 on NIH RePORTER |
What this research studies
Researchers are mapping how a cellular machine called the exon junction complex (EJC) controls Nonsense-Mediated Decay (NMD), the pathway that removes mRNAs with premature stop signals. They use genetic, genomic, molecular, biochemical, and cell-based methods in cultured human cells and in zebrafish embryos to see how different EJC and UPF protein combinations change NMD activity. The team aims to identify molecular switches that determine whether an mRNA is decayed and how that influences stem cells and neurodevelopment. Understanding these mechanisms could explain why mutations in these pathways cause developmental defects and intellectual disability.
Who could benefit from this research
Good fit: People with developmental delay, intellectual disability, or autism who have known or suspected genetic 'nonsense' mutations affecting gene messages would be most directly relevant.
Not a fit: Patients whose condition is unrelated to genetic nonsense mutations or EJC/NMD pathway dysfunction are less likely to see direct benefits from this basic laboratory research in the near term.
Why it matters
Potential benefit: If successful, this work could point to new biological targets for therapies to prevent or reduce developmental and neurological problems caused by faulty gene messages.
How similar studies have performed: Prior studies have shown that NMD and the EJC are important and that mutations in these pathways can cause neurodevelopmental disorders, but the specific ways EJC composition alters NMD and leads to disease are still being worked out.
Where this research is happening
Columbus, UNITED STATES
- Ohio State University — Columbus, United States (Active)
Researchers
- Principal investigator: Singh, Guramrit — Ohio State University
- Study coordinator: Singh, Guramrit
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.