Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene
| Autor: | Amedeo Lonardo, Sebastiano Calandra, G. Ballarini, Franca Sala, Patrizia Tarugi, Carlo Gabelli, L. Previato, I. Cortella, Renzo Cordera, Stefano Bertolini |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Proband
Adult Male medicine.medical_specialty Apolipoprotein B Lipoproteins carotid atherosclerosis DNA Mutational Analysis QD415-436 truncated apoBs digestive system Biochemistry Exon Endocrinology Internal medicine medicine Centrifugation Density Gradient Humans Amino Acid Sequence Gene Tangier Disease fatty liver Aged Apolipoproteins B Genetics biology Base Sequence lipid malabsorption Fatty liver nutritional and metabolic diseases Cell Biology Exons medicine.disease Lipids Stop codon Pedigree Phenotype Liver Mutation biology.protein lipids (amino acids peptides and proteins) Female Hypobetalipoproteinemia Steatohepatitis |
| Zdroj: | Europe PubMed Central Journal of Lipid Research, Vol 42, Iss 10, Pp 1552-1561 (2001) Scopus-Elsevier Publons |
| ISSN: | 0022-2275 |
| Popis: | We report the clinical phenotype in three kin- dreds with familial heterozygous hypobetalipoproteinemia (FHBL) carrying novel truncated apolipoprotein Bs (apoBs) of different sizes (apoB-8.15, apoB-33.4 and apoB-75.7). In D.A. kindred, we found three carriers of a C-deletion in exon 10 leading to the synthesis of apoB-8.15 not detectable in plasma. They showed steatorrhea and fatty liver. In N.L. kindred, the proband is heterozygous for a nonsense muta- tion in exon 26, leading to the formation of apoB-33.4. He had premature cerebrovascular disease and fatty liver; two apoB-33.4 carriers in this kindred showed only fatty liver. In B.E. kindred, the proband is heterozygous for a T-deletion in exon 26, which converts tyrosine at codon 3435 into a stop codon, resulting in apoB-75.7. The proband, a heavy al- cohol drinker, had steatohepatitis, whereas his teetotaller daughter, an apoB-75.7 carrier, had no detectable fatty liver. This study suggests that: i ) fatty liver invariably de- velops in FHBL carriers of short and medium-size trun- cated apoBs ( , apoB-48), but its occurrence needs additional environmental factors in carriers of longer apoB forms; ii ) in- testinal lipid malabsorption develops only in carriers of short truncated apoBs, which are not secreted into the plasma; and iii ) cerebrovascular disease due to premature athero- sclerosis may occur even in FHBL subjects. — Tarugi, P., A. Lonardo, C. Gabelli, F. Sala, G. Ballarini, I. Cortella, L. Previato, S. Bertolini, R. Cordera, and S. Calandra. Pheno- typic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. J. Lipid Res. 2001. 42: 1552-1561. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|