Inactive X chromosome changes in B cells linked to lupus in women
Gene regulation mechanisms involving the inactive X in B cells during lupus disease
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11138211
This work looks at whether problems keeping one X chromosome turned off in women's B cells lead to excess immune activity that contributes to lupus.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11138211 on ClinicalTrials.gov |
What this research studies
This research compares B cells from women with lupus and from mouse models to see if the inactive X chromosome loses its normal 'off' signals, such as Xist RNA and heterochromatic marks. Scientists will examine 3D chromosome architecture, gene expression of X-linked immune genes, and the effects of type I interferon-driven inflammation. The team uses patient blood samples alongside genetic mouse models that alter X-chromosome inactivation to connect molecular changes to B cell behavior. Findings aim to reveal molecular steps that could be targeted to reduce harmful B cell activity in female lupus patients.
Who could benefit from this research
Good fit: Women with systemic lupus erythematosus who are willing to provide blood samples and have signs of immune activation (for example elevated interferon-related markers) would be ideal candidates.
Not a fit: People without SLE, men with SLE, or patients whose disease is driven by mechanisms unrelated to B cell X-linked gene dysregulation may not directly benefit from this work.
Why it matters
Potential benefit: If successful, the work could point to new targets to reduce harmful B cell-driven immune responses in women with lupus.
How similar studies have performed: Previous work, including data from this team, has shown reduced Xist RNA and abnormal X-linked gene expression in lupus B cells, but translating those findings into therapies is still at an early stage.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ANGUERA, MONTSERRAT C — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: ANGUERA, MONTSERRAT C
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.
Conditions: Autoimmune Diseases