Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

@article{Hobbs1992MolecularGO,
  title={Molecular genetics of the LDL receptor gene in familial hypercholesterolemia},
  author={H. Hobbs and Michael S Brown and J. Goldstein},
  journal={Human Mutation},
  year={1992},
  volume={1}
}
The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that mediates the uptake and lysosomal degradation of plasma LDL, thereby providing cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in the LDL receptor gene have been characterized at a molecular… Expand
Mutations of the low-density-lipoprotein receptor gene and familial hypercholesterolemia
TLDR
The evaluation of naturally occurring mutants has permitted an extensive structure-function analysis of this receptor that has provided insight into the biochemistry and cell biology of cell-surface receptors in general. Expand
Familial hypercholesterolaemia: mutations in the gene for the low-density-lipoprotein receptor.
  • A. Soutar
  • Biology, Medicine
  • Molecular medicine today
  • 1995
Familial hypercholesterolaemia is a co-dominant inherited disorder of lipoprotein metabolism, in which defects in the gene for the low-density-lipoprotein (LDL) receptor result in a twofold increaseExpand
[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].
TLDR
This review provides a comprehensive overview of LDLR gene mutations in Chinese FH patients and identifies 108 variants that should be considered for FH diagnosis and therapy. Expand
The Major Molecular Causes of Familial Hypercholesterolemia
TLDR
The molecular disorder in LDLR, ApoB-100, LDLRAP1 and PCSK gene is highlighted, leading to the possible accession on early diagnosis, screening of FH based on the clinical characteristics, family history, evaluated LDL-Cholesterol levels and recently genetic testing aided, hence molecular based therapy will be applied or recommended to FH patients. Expand
Software and database for the analysis of mutations in the human LDL receptor gene
TLDR
To facilitate the mutationalAnalysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database have been created. Expand
HDL cholesterol levels in patients with molecularly defined familial hypercholesterolemia.
TLDR
Low HDL cholesterol levels in heterozygous FH patients may be affected by the apoE gene polymorphism, which has been shown to be an independent risk factor for coronary heart disease in this population. Expand
Molecular basis of familial hypercholesterolemia: An Indian experience
TLDR
The findings warrant application of a generalized mutation screening method in search for new LDL receptor gene defects, which have occurred at CpG dinucleotide, a mutational hotspot in human genetic disease. Expand
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia
TLDR
Analysis of single-strand conformation polymorphisms of exons 10 and 11 of the LDL receptor gene from familial hypercholesterolemia heterozygotes indicated the presence of two mutations, which were characterized by DNA sequencing. Expand
LDL‐receptor mutations in Europe
TLDR
This work focuses on the published European LDLR mutation data that reflect its heterogeneity and phenotypic penetrance and emphasizes the crucial importance of LDL metabolism intra‐ and extracellularly in determining LDL‐cholesterol serum concentration. Expand
A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
TLDR
This work has identified different combinatory mixtures of LDLR- and LDLRAP1-gene defects as the cause for severe familial hypercholesterolemia in this family of Turkish descent and shows for the first time that a heterozygous LDLR mutation combined with a homozygous cholesterol-reducing LDLR AP1 mutation produces a more severe hyperch cholesterololemia phenotype in the same family. Expand
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