Whole-exome and genome sequencing in consanguineous families with unsolved lipodystrophy identified biallelic pathogenic loss-of-function variants in the phospholipase gene PLAAT3. Multi-omics and functional analyses in human and mouse PLAAT3-deficient adipose tissue and adipose stem cells revealed an adipocyte differentiation defect that is mediated by an altered gene network downstream of the adipogenesis master regulator PPARγ.
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References
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This is a summary of: Schuermans, N. et al. Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPAR signaling. Nat. Genet. https://doi.org/10.1038/s41588-023-01535-3 (2023).
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Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy. Nat Genet 55, 1790–1791 (2023). https://doi.org/10.1038/s41588-023-01536-2
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DOI: https://doi.org/10.1038/s41588-023-01536-2
