Print Email Facebook Twitter Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia Title Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia Author Hoffer, M.J.V. Niththyananthan, S. Naoumova, R.P. Kibirige, M.S. Frants, R.R. Havekes, L.M. Thompson, G.R. Gaubius Instituut TNO Publication year 1996 Abstract Apolipoprotein E (apoE) is one of the major protein constituents of chylomicron and very low density lipoprotein (VLDL) remnants and plays a central role as a ligand in the receptor-mediated uptake of these particles by the liver. Here we describe a new variant of apoE, apoE1-Hammersmith, which is associated with dominantly expressed type III hyperlipidaemia. The propositus, aged 26, developed tubero-eruptive xanthomas at the age of 3, her daughter developed similar lesions at age 7 but her son, aged 3, shows no clinical abnormality so far. All three cases had an apoE3E1 phenotype and a broad β band on lipoprotein electrophoresis. Cysteamine modification resulted in a shift of apoE1 to the apoE2 isoform position, indicating that the mutation leading to apoE1-Hammersmith occurred on an apoE3 background. ApoE genotyping confirmed these results. Sequence analysis of DNA of the propositus was performed for exons 3 and 4 and revealed a dinucleotide substitution causing two amino acid changes at adjacent positions (Lys146 → Asn) and (Arg147 → Trp). Chemicals/CAS: Anticholesteremic Agents; Antilipemic Agents; Apolipoproteins E; Cholesterol, 57-88-5; Cholestyramine, 11041-12-6; Cysteamine, 60-23-1; DNA, 9007-49-2; Procetofen, 49562-28-9; Radiation-Protective Agents; Triglycerides Subject BiologyDyslipidaemiaCclofibrateColestyramineMercaptamineAtherosclerosisCase reportAdultAnticholesteremic AgentsAntilipemic AgentsApolipoproteins EChildChild, PreschoolCholesterolCholestyramineCysteamineDinucleotide RepeatsDNAElectrophoresisExonsFemaleGenotypeHumansHyperlipoproteinemia Type IIIImmunoblottingMaleNuclear FamilyPhenotypePoint MutationProcetofenRadiation-Protective AgentsTriglycerides To reference this document use: http://resolver.tudelft.nl/uuid:75a26cb7-3758-40f7-a8c1-8f830d62b7bf DOI https://doi.org/10.1016/0021-9150(96)05819-4 TNO identifier 233418 ISSN 0021-9150 Source Atherosclerosis, 124 (2), 183-189 Document type article Files To receive the publication files, please send an e-mail request to TNO Library.