Why fat is lost in lamin A/C-related lipodystrophy
Mechanisms of adipocyte loss in laminopathy-induced lipodystrophy in mice and humans
Researchers are working to understand why people with LMNA gene changes gradually lose fat tissue and develop metabolic problems like high blood sugar.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11179447 on NIH RePORTER |
What this research studies
If I had LMNA-related partial lipodystrophy, this project would compare engineered mice that mimic human LMNA mutations with samples and data from people with the same condition to see how mature fat cells are lost over time. The team uses inducible and knock-in mouse models that carry disease-causing LMNA variants and follows fat distribution, liver fat, blood sugar, and insulin changes as animals move through puberty into adulthood. They will examine fat tissue at the cellular and molecular level to identify what causes adipocytes to disappear and whether the same changes occur in human patients. Findings are intended to link specific LMNA defects to the cell processes that drive fat loss and metabolic complications.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with familial partial lipodystrophy type 2 or those with known pathogenic LMNA variants and related fat-loss symptoms.
Not a fit: People whose fat-loss or metabolic problems are not caused by LMNA mutations or who have unrelated forms of lipodystrophy are unlikely to benefit directly from this work.
Why it matters
Potential benefit: Understanding the mechanisms could point to ways to prevent or slow fat loss and related diabetes in people with LMNA-linked lipodystrophy.
How similar studies have performed: Prior research has described LMNA-linked lipodystrophy and produced mouse models, but the progressive loss of mature adipocytes and its molecular causes remain relatively novel and incompletely understood.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Macdougald, Ormond a — University of Michigan at Ann Arbor
- Study coordinator: Macdougald, Ormond a
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.