AI Article Synopsis
- A novel genetic cause of partial lipodystrophy has been identified, linked to a nonsense variant in the early B cell factor 2 gene (p.E165X).
- The patient exhibited progressive loss of fat tissue and worsening metabolic health from a young age, indicating an atypical presentation of the condition.
- Laboratory studies show that this genetic variant hinders fat cell development, resulting in an increase of undeveloped cells and inflammation in fat tissues, which disrupts normal tissue function and structure.
Article Abstract
We report a novel cause of partial lipodystrophy associated with early B cell factor 2 () nonsense variant ( 8:26033143 C>A, c.493G>T, p.E165X) in a patient with an atypical form of partial lipodystrophy. The patient presented with progressive adipose tissue loss and metabolic deterioration at pre-pubertal age. and disease modeling demonstrates that the variant impairs adipogenesis, causing excess accumulation of undifferentiated CD34 cells, extracellular matrix proteins, and inflammatory myeloid cells in subcutaneous adipose tissues. Thus, this p.E165X variant disrupts adipose tissue structure and function, leading to the development of partial lipodystrophy syndrome.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11230304 | PMC |
| http://dx.doi.org/10.1101/2024.06.24.24309093 | DOI Listing |
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