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Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia. 1995

P Richard, and M P de Zulueta, and I Beucler, and J L De Gennes, and A Cassaigne, and A Iron
Département de Biochimie Médicale et Biologie Moléculaire, Université de Bordeaux, France.

A new rare apolipoprotein E mutant was identified as we were investigating the apolipoprotein E genotype of patients with type III hyperlipidemia (HLP III). The unusual DNA restriction fragment length polymorphism profile and then the sequence analysis of a PCR amplified fragment of the proband's apo E gene revealed a simple base substitution (G-->T) at nucleotide 3836. This mutation leads to the replacement of arginine by leucine at position 142 of the mature protein. The proband carried the mutant allele at the heterozygous status with an epsilon 3 allele. Subsequently, analysis of the proband's father's apo E gene showed that same mutated allele associated with an epsilon 2 allele. The two subjects presented a dysbetalipoproteinemia in which this new apo E variant could be implicated.

UI MeSH Term Description Entries
D006952 Hyperlipoproteinemia Type III An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides. Autosomal Recessive Hypercholesterolemia,Broad Beta Disease,Dysbetalipoproteinemia,Dysbetalipoproteinemia, Familial,Familial Dysbetalipoproteinemia,Familial Hypercholesterolemia with Hyperlipemia,Hypercholesterolemia, Autosomal Recessive,Hyperlipoproteinemia, Broad-beta,Hyperlipoproteinemia, Type III,Autosomal Recessive Hypercholesterolemias,Broad-beta Hyperlipoproteinemia,Hyperlipoproteinemia, Broad beta,Hyperlipoproteinemias, Type III,Recessive Hypercholesterolemia, Autosomal,Type III Hyperlipoproteinemia,Type III Hyperlipoproteinemias
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002995 Clofibric Acid An antilipemic agent that is the biologically active metabolite of CLOFIBRATE. Clofibrinic Acid,2-(4-Chlorophenoxy)-2-methylpropionic Acid,NSC-1149,p-Chlorophenoxyisobutyrate,p-Chlorophenoxyisobutyric Acid,NSC 1149,NSC1149
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly

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