Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48
| Autor: | Francesca Ragogna, Alberico L. Catapano, Cristina Tettamanti, F. Viganò, Giacomo Ruotolo, M. Parlavecchia, Tiziano Zanelli |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Very low-density lipoprotein Apolipoprotein B Cholesterol VLDL DNA Mutational Analysis Gene mutation medicine.disease_cause Hypobetalipoproteinemias chemistry.chemical_classification Mutation biology Immunochemistry Sodium Dodecyl Sulfate Middle Aged Amino acid Pedigree Cholesterol Phenotype lipids (amino acids peptides and proteins) Electrophoresis Polyacrylamide Gel Female Cardiology and Cardiovascular Medicine Oligopeptides Apolipoprotein A-II Adult medicine.medical_specialty DNA Complementary Mothers Apolipoproteins E Internal medicine Complementary DNA medicine Humans Point Mutation Apolipoproteins C Triglycerides Aged Apolipoproteins B Family Health Apolipoprotein C-III Apolipoprotein A-I Base Sequence Cholesterol HDL Cholesterol LDL medicine.disease Endocrinology chemistry biology.protein Apolipoprotein C-II Hypobetalipoproteinemia Apolipoprotein B-48 Gene Deletion Lipoprotein |
| Zdroj: | Atherosclerosis. 137(1) |
| ISSN: | 0021-9150 |
| Popis: | Familial hypobetalipoproteinemia is an autosomal codominant trait that can be caused by mutations in the apo B gene. Here we report a novel apo B gene mutation causing hypobetalipoproteinemia, that is associated with the synthesis of a truncated apo B protein in a young healthy male subject and his mother. The mutation is an A deletion at position 6627 of the apo B cDNA leading to a truncated protein of 2166 amino acids (apo B-48.4). This truncated apo B was detected mainly in VLDL, LDL and in trace amounts in HDL, but not in the lipoprotein deficient plasma fraction. Affected family members present with elevated levels of HDL-cholesterol, mainly due to an increase in HDL2 particles. Postprandial triglycerides and retinyl esters in the dB1.006 g:ml lipoprotein in the proband showed a normal response to an oral fat load compared to a group of eight matched healthy controls. In summary this novel mutation is associated with hypobetalipoproteinemia with a normal fat absorption as expected for a protein with a length similar to that of apo B-48. © 1998 Elsevier Science Ireland Ltd. All rights reserved. |
| Databáze: | OpenAIRE |
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