Variable expression of hypercholesterolemia in Apolipoprotein E2 (Arg136 --> Cys) heterozygotes

• Published in: Physiological research Vol. 49; no. 3; pp. 307 - 314
• Main Authors: Hubácek, J A, Pitha, J, Stávek, P, Schmitz, G, Poledne, R
• Format: Journal Article
• Language: English
• Published: Czech Republic 2000
• Subjects: Apolipoproteins B - blood; Apolipoproteins E - genetics; Cholesterol - blood; Czech Republic; Deoxyribonucleases, Type II Site-Specific; Family Health; Female; Genotype; Heterozygote; Humans; Hypercholesterolemia - genetics; Hyperlipoproteinemia Type III - genetics; Male; Middle Aged; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Restriction Mapping; Czech Republic
• ISSN: 0862-8408; 1802-9973
• DOI: 10.33549/physiolres.930000.49.307

In the process of population screening for apo E gene polymorphism with the PCR and subsequent restriction analysis, we identified a female who demonstrated heterozygosity for an unusual restriction fragment caused by the loss of a CfoI restriction site. Sequence analysis of the apo E gene was performed and a carrier of the mutant allele with C --> T substitution at cDNA position 3817 was identified, which caused an Arg136 --> Cys change. The first-line relatives have been screened for this rare mutation with PCR and restriction analysis of PCR products. The complete lipoprotein parameters have been determined in the probands family. In the family, only one child had the same mutant allele as his mother had. The proband (7.49 mmol/l) with her siblings had hypercholesterolemia and a high body mass index (BMI 31.6 kg/m2). By contrast, her son had a normal lipid spectrum with normal BMI. We described the mutation apo E2* (Arg136 --> Cys) in a family with elevated lipid levels, but there was no confirmation of the connection between this mutation and type III hyperlipoproteinemia or hyperlipoproteinemia at all. In the case of this mutation, other factors (mainly genetic) are important for the development of lipid metabolism disorders.