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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/144758
PI3K (Phosphatidylinositol 3-Kinase) activation and endothelial cell proliferation in patients with hemorrhagic hereditary telangiectasia type 1
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Hemorrhagic hereditary telangiectasia (HHT) type 2 patients have increased activation of the phosphatidylinositol 3-kinase (PI3K) signaling pathway in telangiectasia. The main objective is to evaluate the activation of the PI3K pathway in cutaneous telangiectasia of HHT1 patients. A cutaneous biopsy of a digital hand telangiectasia was performed in seven HHT1 and eight HHT2 patients and compared with six controls. The study was approved by the Clinical Research Ethics Committee of our center. A histopathological pattern with more dilated and superficial vessels that pushed up the epidermis was identified in HHT patients regardless of the type of mutation and was associated with older age, as opposed to the common telangiectasia pattern. The mean proliferation index (Ki-67) was statistically higher in endothelial cells (EC) from HHT1 than in controls. The percentage of positive EC for pNDRG1, pAKT, and pS6 in HHT1 patients versus controls resulted in higher values, statistically significant for pNDRG1 and pS6. In conclusion, we detected an increase in EC proliferation linked to overactivation of the PI3K pathway in cutaneous telangiectasia biopsies from HHT1 patients. Our results suggest that PI3K inhibitors could be used as novel therapeutic agents for HHT.
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IRIARTE, Adriana, FIGUERAS I AMAT, Agnès, CERDÀ, Pau, MORA, José maría, JUCGLÀ, Anna, PENÍN, Rosa maria, VIÑALS CANALS, Francesc, RIERA MESTRE, Antoni. PI3K (Phosphatidylinositol 3-Kinase) activation and endothelial cell proliferation in patients with hemorrhagic hereditary telangiectasia type 1. _Cells_. 2019. Vol. 8, núm. 9, pàgs. E971. [consulta: 15 de gener de 2026]. ISSN: 2073-4409. [Disponible a: https://hdl.handle.net/2445/144758]