RT Journal Article
T1 Molecular and Cellular Characterization of Primary Endothelial Cells from a Familial Cavernomatosis Patient
A1 Lorente-Herraiz, Laura
A1 Cuesta Martínez, Ángel
A1 Granado, Jaime
A1 Recio-Poveda, Lucía
A1 Botella, Luisa-María
A1 Albiñana, Virginia
AB Cerebral cavernous malformation (CCM) or familial cavernomatosis is a rare, autosomal dominant, inherited disease characterized by the presence of vascular malformations consisting of blood vessels with an abnormal structure in the form of clusters. Based on the altered gene (CCM1/Krit1, CCM2, CCM3) and its origin (spontaneous or familial), different types of this disease can be found. In this work we have isolated and cultivated primary endothelial cells (ECs) from peripheral blood of a type 1 CCM patient. Differential functional and gene expression profiles of these cells were analyzed and compared to primary ECs from a healthy donor. The mutation of the familial index case consisted of a heterozygous point mutation in the position +1 splicing consensus between exons 15 and 16, causing failure in RNA processing and in the final protein. Furthermore, gene expression analysis by quantitative PCR revealed a decreased expression of genes involved in intercellular junction formation, angiogenesis, and vascular homeostasis. Cell biology analysis showed that CCM1 ECs were impaired in angiogenesis and cell migration. Taken together, the results obtained suggest that the alterations found in CCM1 ECs are already present in the heterozygous condition, suffering from vascular impairment and somewhat predisposed to vascular damage.
PB MDPI
SN 1422-0067
YR 2024
FD 2024-04-02
LK https://hdl.handle.net/20.500.14352/115589
UL https://hdl.handle.net/20.500.14352/115589
LA eng
NO 1. Lorente-Herraiz L, Cuesta AM, Granado J, Recio-Poveda L, Botella LM, Albiñana V. Molecular and cellular characterization of primary endothelial cells from a familial cavernomatosis patient. IJMS [Internet]. 2 de abril de 2024 [citado 22 de enero de 2025];25(7):3952. Disponible en: https://www.mdpi.com/1422-0067/25/7/3952
NO Ministerio de Economía y Competitividad (España)
NO Ministerio de Ciencia e Innovación (España)
DS Docta Complutense
RD 4 abr 2025