Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48.
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| Abstract |
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 d < 1.006 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.
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| Authors | G Ruotolo, T Zanelli, C Tettamanti, F Ragogna, M Parlavecchia, F Viganò, A L Catapano |
| Journal | Atherosclerosis (Atherosclerosis) Vol. 137 Issue 1 Pg. 125-31 (Mar 1998) ISSN: 0021-9150 [Print] Ireland |
| PMID | 9568744 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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