A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas
| Autor: | G C Fragiacomo, Harald Funke, C Motti, A. von Eckardstein, G. Noseda, Gerd Assmann, R Römling |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Adult
medicine.medical_specialty Apolipoprotein B Transgene Nonsense mutation Molecular Sequence Data Coronary Disease chemistry.chemical_compound Tangier disease Internal medicine medicine Xanthomatosis Humans Gene biology Apolipoprotein A-I Base Sequence Cholesterol Reverse cholesterol transport Cholesterol HDL Homozygote nutritional and metabolic diseases medicine.disease Pedigree Endocrinology chemistry Codon Nonsense Mutation (genetic algorithm) Mutation biology.protein Eyelid Diseases lipids (amino acids peptides and proteins) Female Cardiology and Cardiovascular Medicine |
| Zdroj: | Arteriosclerosis and thrombosis : a journal of vascular biology. 14(12) |
| ISSN: | 1049-8834 |
| Popis: | Conflicting data from epidemiological trials, genetic family studies, transgenic animal models, and in vitro experiments have created controversy regarding the importance of HDL and apolipoprotein (apo) A-I for reverse cholesterol transport and protection from atherosclerosis. In this study we identified a homozygous nonsense mutation in codon 32 (Q32X) of the apoA-I gene as the molecular basis of apoA-I deficiency in a 31-year-old woman who did not present with clinical signs of atherosclerosis. Despite half-normal plasma concentrations of HDL cholesterol and apoA-I in subjects heterozygous for this mutation, the history of the patient's large family did not indicate any increased prevalence of myocardial infarction. |
| Databáze: | OpenAIRE |
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