How the KMT5B gene may shape brain growth, hormone signals, and behavior
Epigenetic regulation of the neuroendocrine axis in brain development and behavior
Researchers are looking at whether changes in the KMT5B gene alter hormone signals in the brain and body that could contribute to autism and related behavioral differences.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Creighton University NIH-funded |
| Lab location | 1 site (Omaha, United States) |
| Project ID | NIH-11231231 on NIH RePORTER |
What this research studies
This project focuses on KMT5B, a gene linked to many cases of autism, and will look at how it controls chromatin and gene activity that affect insulin-like growth factors (IGF1 and IGF2). The team will use mice that lack KMT5B either everywhere or only in the brain to measure local (paracrine) and circulating (endocrine) IGF levels over development. They will examine brain tissue for changes in gene regulation and chromatin accessibility and test behaviors relevant to autism. The goal is to connect molecular changes caused by KMT5B loss to hormone signaling and behavioral outcomes.
Who could benefit from this research
Good fit: People with autism or neurodevelopmental conditions who carry disruptive KMT5B variants, or families with known KMT5B-linked diagnoses, would be the most relevant candidates to follow or contribute samples to related efforts.
Not a fit: People without KMT5B changes or whose symptoms are caused by unrelated genetic or environmental factors are unlikely to benefit directly from this specific line of research.
Why it matters
Potential benefit: If successful, this work could point to hormone-related pathways (like IGF) as targets for future tests or treatments for people with KMT5B-linked neurodevelopmental differences.
How similar studies have performed: Prior animal and genetic studies have linked KMT5B to brain development and autism-related traits, but directly tying KMT5B to IGF hormone changes and behavior is a newer and less-tested direction.
Where this research is happening
Omaha, United States
- Creighton University — Omaha, United States (Active)
Researchers
- Principal investigator: Feser Stessman, Holly Annette — Creighton University
- Study coordinator: Feser Stessman, Holly Annette
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.