Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B
| Autor: | A. Bagni, Pulvirenti M, Sebastiano Calandra, Amedeo Lonardo, G. Ballarini, Grisendi A, Patrizia Tarugi |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
Male Proband Heterozygote Apolipoprotein B Lipoproteins Molecular Sequence Data Biology medicine.disease_cause Polymerase Chain Reaction Frameshift mutation Hypobetalipoproteinemias Exon medicine Humans Familial hypobetalipoproteinemia Polymorphism Single-Stranded Conformational Apolipoproteins B fatty liver Mutation Base Sequence Hepatology Fatty liver Gastroenterology Nucleic acid sequence Exons truncated apoB medicine.disease Molecular biology Fatty Liver Biochemistry biology.protein lipids (amino acids peptides and proteins) Hypobetalipoproteinemia |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0016-5085 |
| DOI: | 10.1016/s0016-5085(96)70082-3 |
| Popis: | Fatty liver has been anecdotally associated with heterozygous hypobetalipoproteinemia. The aim of this study was to characterize the molecular defect in a subject with heterozygous hypobetalipoproteinemia (low-density lipoprotein cholesterol, 52 mg/dL; apolipoprotein [apo] B, 15 mg/dL) and otherwise unexplained fatty liver. Plasma lipoproteins were separated by ultracentrifugation, and apo B was analyzed by electrophoresis and immunoblotting. A fragment of genomic DNA corresponding to the 5' end of exon 26 of the apo B gene was amplified by polymerase chain reaction and sequenced. The plasma lipoproteins of the proband contained, besides normal apo B-100, a 200-kilodalton truncated apo B whose size suggested the presence of a mutation in exon 26 of the apo B gene. The nucleotide sequence of a fragment of the 5' end of exon 26 revealed that the proband was a heterozygote for a 14- nucleotide deletion, producing a frameshift resulting in a premature stop codon at residue 1768. This truncated apo B was named apo B-38.95. The proband's father was a carrier of the same mutation. Fatty liver in this subject with familial heterozygous hypobetalipoproteinemia most likely results from the inability of apo B-38.95 to export lipids from hepatocytes into the blood stream. Heterozygous hypobetalipoproteinemia should be considered in a hypolipidemic subject with an otherwise unexplained fatty liver. (Gastroenterology 1996 Oct;111(4):1125-33) |
| Databáze: | OpenAIRE |
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