Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.
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چکیده
منابع مشابه
A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus.
Familial hypobetalipoproteinemia is caused by mutations in the apolipoprotein (apo) B gene. We identified a 57-year-old woman whose plasma total cholesterol and apoB levels were 2.17 mmol/L and 0.03 g/L, respectively. Separation of plasma lipoproteins by sodium dodecyl sulfate-polyacrylamide gel electrophoresis revealed the absence of apoB-100 and the presence of a faster-migrating form of apoB...
متن کاملPhenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.
We report the clinical phenotype in three kindreds 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....
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Abstract Background: Recently, small dense low density lipoprotein (sdLDL) has been highlighted as a new risk factor for the coronary artery disease (CAD).Small dense LDLs are believed to be atherogenic since these particles are taken up more easily by arterial wall. They are readily oxidized and have reduced affinity for low density lipoprotein (LDL) receptor and increased affinity...
متن کاملTwo distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.
Two novel, distinct truncated forms of apolipoprotein B (apo B) designated as apo B-90 and apo B-40 were found in five members of a kindred with hypobetalipoproteinemia. Sodium dodecyl sulfate gels and immunoblots of plasma or low density lipoprotein (LDL) (d = 1.019 to 1.063 g/ml) of the affected members demonstrated the presence of one or both of the truncated apo B bands. Employing four mono...
متن کاملFamilial Hypobetalipoproteinemia Caused by a Mutation in the Apolipoprotein B Gene
Apolipoprotein B-100 has a crucial structural role in the formation ofVLDL and LDL. Familial hypobetalipoproteinemia, a syndrome in which the concentration of LDL cholesterol in plasma is abnormally low, can be caused by mutations in the apo B gene that prevent the translation of a full-length apo B-100 molecule. Prior studies have revealed that truncated species of apo B [e.g., apo B-37 (1728 ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1987
ISSN: 0021-9738
DOI: 10.1172/jci113025