How missing FMRP changes gene control in Fragile X
Defining post-transcriptional gene regulation in FMRP-deficiency usingmiRNA:target chimeras
This project compares how tiny RNAs control gene activity in brains affected by Fragile X Syndrome versus typical brains, using mice and human neurons.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11243488 on NIH RePORTER |
What this research studies
From a patient's point of view, researchers are mapping how microRNAs and their partner RNA messages are handled when the Fragile X protein (FMRP) is missing. They will use a technique that links microRNAs to the transcripts they target (miRNA:target chimeras) to see which genes are being repressed or misregulated. The work uses both an Fmr1 knockout mouse model and neurons grown from human cells to compare patterns across species. By looking across the whole genome, they hope to pinpoint specific molecular changes that help explain the brain growth and synapse problems seen in Fragile X.
Who could benefit from this research
Good fit: People with Fragile X Syndrome or families willing to donate biological samples or have cells reprogrammed for research would be the best candidates to contribute to this work.
Not a fit: People without Fragile X or those seeking immediate clinical treatment are unlikely to receive direct benefit from this basic laboratory research.
Why it matters
Potential benefit: If successful, this work could reveal specific molecular targets that guide future treatments for Fragile X and related autism features.
How similar studies have performed: Previous studies have linked microRNA misregulation to Fragile X, but applying genome-wide miRNA:target chimera mapping in both mouse and human neurons is a newer, more comprehensive approach.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Meffert, Mollie Katherine — Johns Hopkins University
- Study coordinator: Meffert, Mollie Katherine
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.