What controls Lamin B1 in adult-onset autosomal dominant leukodystrophy
Elucidating Regulatory Mechanisms of Lamin B1 Expression in Autosomal Dominant Leukodystrophy
This project looks at why extra or misregulated copies of the LMNB1 gene cause adult-onset autosomal dominant leukodystrophy by studying patient samples, lab-grown human oligodendrocytes, and a new mouse model.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11258055 on NIH RePORTER |
What this research studies
Researchers will compare information from people with ADLD to experiments in a new mouse model and in human-derived oligodendrocyte lineage cells to find DNA regions that make LMNB1 too active. They will map candidate non-coding regulatory elements and test their effects on LMNB1 expression both in cell cultures and in living mice. The team will use patient data, genetic analyses, and functional experiments to see how mis-expression of LMNB1 affects oligodendrocyte function and myelin. This approach aims to explain why a widely expressed gene causes a very specific adult demyelinating disorder.
Who could benefit from this research
Good fit: Adults (21+) with a confirmed LMNB1 duplication or upstream deletion causing ADLD, or family members/carriers willing to provide samples or medical records, would be ideal participants.
Not a fit: People without LMNB1 mutations or those with unrelated demyelinating disorders are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, the work could identify genetic switches to target for therapies that lower LMNB1 levels and potentially slow or prevent ADLD.
How similar studies have performed: Prior studies showed that LMNB1 duplications and nearby deletions cause ADLD, but pinpointing the specific regulatory elements and mechanisms is a novel and largely untested aim.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Padiath, Quasar S — University of Pittsburgh at Pittsburgh
- Study coordinator: Padiath, Quasar S
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.