Reverse Cholesterol Transport Dysfunction Is a Feature of Familial Hypercholesterolemia

Purpose of Review: We seek to establish whether high-density lipoprotein HDL metabolism and reverse cholesterol transport (RCT) impairment is an intrinsic feature of familial hypercholesterolemia (FH). Recent Findings: RCT from macrophages (m-RCT), a vascular cell type of major influence on atherosc...

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Detalles Bibliográficos
Autores: Escolà-Gil, Joan Carles|||0000-0001-9021-2485, Rotllan, Noemi|||0000-0002-0587-8045, Julve i Gil, Josep|||0000-0002-6531-2246, Blanco Vaca, Francisco|||0000-0001-7380-5385
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:273040
Acceso en línea:https://ddd.uab.cat/record/273040
https://dx.doi.org/urn:doi:10.1007/s11883-021-00928-1
Access Level:acceso abierto
Palabra clave:HDL
LDL receptor
Macrophage
Autosomal dominant hypercholesterolemia
Descripción
Sumario:Purpose of Review: We seek to establish whether high-density lipoprotein HDL metabolism and reverse cholesterol transport (RCT) impairment is an intrinsic feature of familial hypercholesterolemia (FH). Recent Findings: RCT from macrophages (m-RCT), a vascular cell type of major influence on atherosclerosis, is impaired in FH due to defective low-density lipoprotein receptor (LDLR) function via both the HDL- and LDL-mediated pathways. Potential mechanisms include impaired HDL metabolism, which is linked to increased LDL levels, as well as the increased transport of cellular unesterified cholesterol to LDL, which presents a defective catabolism. Summary: RCT dysfunction is consistently associated with mutation-positive FH linked to decreased HDL levels as well as impaired HDL remodeling and LDLR function. It remains to be explored whether these alterations are also present in less well-characterized forms of FH, such as cases with no identified mutations, and whether they are fully corrected by current standard treatments.