Two Italian kindreds carrying the Arg136--Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele
| Autor: | Livia Pisciotta, Giovanni Emmanuele, V. Guido, M. Rolleri, Alberto Notarbartolo, S. Travali, Maurizio Averna, Carlo M. Barbagallo, Davide Noto, Stefano Bertolini, B. Fiore, Angelo B. Cefalù, Nicoletta Vivona |
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| Přispěvatelé: | Rolleri, M., Vivona, N., Emmanuele, G., Cefalù, A., Pisciotta, L., Guido, V., Noto, D., Fiore, B., Barbagallo, C., Notarbartolo, A., Travali, S., Bertolini, S., Averna, M. |
| Rok vydání: | 2003 |
| Předmět: |
Apolipoprotein E
Proband Male Settore MED/09 - Medicina Interna Genotype Apolipoprotein E2 Arteriosclerosis Endocrinology Diabetes and Metabolism Medicine (miscellaneous) Sequence Homology Biology Arteriosclerosi Polymerase Chain Reaction Coronary artery disease Apolipoproteins E Hyperlipoproteinemia Type III medicine Haplotype Humans Allele Genotyping Alleles Genetics Nutrition and Dietetics Base Sequence Lipid Middle Aged medicine.disease Lipids Pedigree Settore MED/03 - Genetica Medica Haplotypes Mutation Female Cardiology and Cardiovascular Medicine Human |
| Zdroj: | Nutrition, metabolism, and cardiovascular diseases : NMCD. 13(2) |
| ISSN: | 0939-4753 |
| Popis: | Background and Aims: Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cy Background and Aims: 12, Cy Background and Aims: 58). Apo E2-Christchurch (Arg136→Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia. Methods and Results: This is the first report of two Italian kindreds carrying the Arg136→Ser mutation. One family is a four-generation kindred from Genoa (Liguria, Italy) with a high rate of mortality due to coronary artery disease: the proband was a 51-year-old woman with previous myocardial infarction and residual angina, severe carotid atherosclerosis, peripheral arterial vascular disease and arterial hypertension. The other family was identified in Palermo (Sicily, Italy): the proband was an overweight 62-year-old man with a mixed form of hyperlipidemia. The mutation, which was identified by means of Apo E genotyping followed by direct sequencing, co-segregated with the same haplotype in the two families. Conclusions: The family histories and clinical examinations of these subjects clearly show that the Apo E Arg136→Ser variant fully expresses a type III phenotype in association with a second allele coding for Apo E2, and only partially in association with a second allele coding for Apo E4. |
| Databáze: | OpenAIRE |
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