Understanding how certain genetic variants affect a key enzyme linked to intellectual disability in males
Official title: Utilizing Causal X-Linked Intellectual Disability Variants to Gain Insight into the O-GlcNAc Transferase Enzyme
Funded at University of Georgia · NIH-11002292 · Data updated 2026-11-12
This study is looking at how certain changes in a gene related to a brain enzyme might affect people with X-Linked Intellectual Disability (XLID), helping us learn more about the condition and possibly leading to new treatments for those affected.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Georgia NIH-funded |
| Lab location | 1 site (Athens, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2025 |
| Funding year | 2025 |
| Award (this year) | $49,538 |
| NIH project number | 5F31HD108843-03 |
| Project ID | NIH-11002292 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are males diagnosed with X-Linked Intellectual Disability, particularly those with known mutations in the OGT gene.
✕Less likely to help
Patients with intellectual disabilities not linked to X-Linked mutations or those without genetic mutations may not benefit from this research.
What this research studies
This research investigates the role of specific genetic mutations in the O-GlcNAc Transferase (OGT) enzyme, which is crucial for modifying proteins involved in brain development and function. By examining both previously identified and novel mutations in the OGT gene, the study aims to understand how these mutations disrupt normal gene expression and contribute to X-Linked Intellectual Disability (XLID). The approach includes biochemical characterization and analysis of the enzyme's activity, which could lead to insights into the underlying mechanisms of XLID. Patients with XLID may benefit from a better understanding of their condition and potential future therapies.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and therapeutic strategies for individuals affected by X-Linked Intellectual Disability.
How similar studies have gone: Previous research has successfully identified mutations in the OGT gene associated with XLID, suggesting that this approach has potential for further discoveries.
Where this research is happening
-
University of Georgia
Athens, United States Active
Researchers
- Principal investigator: Mayfield, Johnathan Martin — University of Georgia
- Study coordinator: Mayfield, Johnathan Martin
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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.