title: Mendelian disorders of high-density lipoprotein metabolism.
abstract: High-density lipoproteins (HDLs) are a highly heterogeneous and dynamic group of the smallest and densest lipoproteins present in the circulation. This review provides the current molecular insight into HDL metabolism led by articles describing mutations in genes that have a large affect on HDL cholesterol levels through their roles in HDL and triglyceride metabolism. Using this information from both human and animal studies, it is discussed how HDL is produced, remodeled in the circulation, affected by factors that control the metabolism of triglyceride-rich lipoproteins, how it helps maintain cellular cholesterol homeostasis, and, finally, how it is catabolized. It can be concluded that HDL cholesterol as a trait is genetically heterogeneous, with as many as 40 genes involved. In most cases, only heterozygotes of gene variants are known, and HDL cholesterol as a trait is inherited in an autosomal-dominant manner. Only 3 Mendelian disorders of HDL metabolism are currently known, which are inherited in an autosomal-recessive mode.
authors.affiliation: From the Departments of Molecular Genetics (F.O., J.A.K.) and Genetics (R.J.S.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
authors.forename: Federico
authors.initials: F
authors.lastname: Oldoni
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: Jan Albert
authors.initials: JA
authors.lastname: Kuivenhoven
mesh_terms: D000818:Animals; D008076:Cholesterol, HDL / Q000235:genetics / Q000378:metabolism*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D009154:Mutation
chemical_list: D008076:Cholesterol, HDL
keywords: cholesterol; lipoproteins, high-density lipoprotein