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Autosomal recessive hypercholesterolemia: a mild phenotype of familial hypercholesterolemia: insight from the kinetic study using stable isotope and animal studies.

Abstract
Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited disorder, the cause of which is mutations in the low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. Only 36 families with 14 different mutations have been reported in the literature to date. The clinical phenotype of ARH is milder than that of homozygous familial hypercholesterolemia (FH) caused by LDL receptor gene mutations. Recently, the lipoprotein metabolism of ARH was investigated in both humans and mice by several investigators, including ourselves. Based on these findings the preserved clearance of LDL receptor-dependent very-LDL (VLDL) may be a possible mechanism underlying the responsiveness to statins and the milder phenotype of ARH. Although ARH has been described as being "recessive," several studies, including ours, have indicated that a heterozygous carrier status of the LDLRAP1 gene is associated with mild hypercholesterolemia and exacerbates the phenotype of FH resulting from LDL receptor gene mutations. This review summarizes current understanding regarding ARH and its causative gene, LDLRAP1, and attempts to provide new insight into novel pharmacological targets for treating dyslipidemic patients.
AuthorsHayato Tada, Masa-Aki Kawashiri, Atsushi Nohara, Akihiro Inazu, Junji Kobayashi, Hiroshi Mabuchi, Masakazu Yamagishi
JournalJournal of atherosclerosis and thrombosis (J Atheroscler Thromb) Vol. 22 Issue 1 Pg. 1-9 ( 2015) ISSN: 1880-3873 [Electronic] Japan
PMID25399932 (Publication Type: Journal Article, Review)
Topics
  • Animals
  • Humans
  • Hypercholesterolemia (metabolism, pathology)
  • Hyperlipoproteinemia Type II (metabolism, pathology)
  • Isotope Labeling
  • Kinetics
  • Mice
  • Phenotype

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