Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy.
A rare genetic defect affecting cell structures disrupts insulin signaling and accelerates aging in fat tissue, linking cellular machinery to metabolic and aging diseases.
Patient-derived fibroblasts carrying a novel homozygous POC5 variant (p.Q206Ter) exhibited supernumerary centrioles, absent/abnormal primary cilia, premature senescence, and impaired insulin signaling; CRISPR-KO of POC5 in adipose stem cells recapitulated these findings and additionally blocked adipogenic differentiation. These results identify POC5-related disease as a centrosomal metabolic disorder, linking centriolar integrity to insulin sensitivity, cellular aging, and adipose tissue homeostasis.
What the study was
- Study design
- mechanistic_in_vitro
- Population
- Patient-derived fibroblasts (POC5 p.Q206Ter homozygous variant) and CRISPR-KO adipose stem cells
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- FASEB J
Why it surfaced
Mechanistic FASEB J study identifying a novel metabolic ciliopathy (POC5 deficiency) that links centriolar integrity to premature senescence, insulin resistance, and adipogenesis—expands the ciliopathy-metabolic disease spectrum with implications for understanding senescence-driven metabolic dysfunction.
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