载脂蛋白B-80家族性低β脂蛋白血症杂合子中的脂蛋白代谢
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.
作者信息
Hooper Amanda J, Robertson Ken, Champain Danie, Hua Jianmin, Song Swithin, Parhofer Klaus G, Barrett P Hugh R, van Bockxmeer Frank M, Burnett John R
机构信息
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Australia.
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Australia.
出版信息
Clin Biochem. 2016 Jun;49(9):720-722. doi: 10.1016/j.clinbiochem.2016.02.008. Epub 2016 Feb 23.
OBJECTIVE
Familial hypobetalipoproteinemia (FHBL) is characterized by mutations in APOB, the majority of these causing protein truncations, and low plasma levels of apolipoprotein (apo) B. The hypobetalipoproteinemia may be due to enhanced clearance and possibly reduced production of apoB-containing lipoproteins; the mechanism may depend on the length of the apoB truncation. We studied fasting lipoprotein metabolism in an FHBL subject heterozygous for a mutation causing a truncated apoB, apoB-80.
DESIGN AND METHODS
Very low density lipoprotein (VLDL)-, intermediate density lipoprotein (IDL)-, and low density lipoprotein (LDL)-apoB kinetics were determined in the fasting state using stable isotope methods and compartmental modeling.
RESULTS
Compared with lean normolipidemic controls the apoB-80 FHBL subject had an elevated VLDL-apoB fractional catabolic rate and lower LDL production. ApoB production rates and IDL- and LDL-apoB fractional catabolic rates were not different.
CONCLUSION
FHBL subjects heterozygous for a mutation truncating apoB to 80% of full-length are able to produce VLDL-apoB normally, but have rapid clearance of these particles, resulting in low levels of circulating apoB.
目的
家族性低β脂蛋白血症（FHBL）的特征是载脂蛋白B（APOB）发生突变，其中大多数导致蛋白质截短，以及血浆载脂蛋白（apo）B水平降低。低β脂蛋白血症可能是由于含apoB脂蛋白的清除增强以及可能的产生减少所致；其机制可能取决于apoB截短的长度。我们研究了一名因导致截短的apoB（apoB - 80）突变而杂合的FHBL受试者的空腹脂蛋白代谢情况。
设计与方法
使用稳定同位素方法和房室模型在空腹状态下测定极低密度脂蛋白（VLDL）、中间密度脂蛋白（IDL）和低密度脂蛋白（LDL）- apoB的动力学。
结果
与体型瘦的血脂正常对照相比，apoB - 80 FHBL受试者的VLDL - apoB分数分解代谢率升高，LDL产生降低。apoB产生率以及IDL和LDL - apoB分数分解代谢率无差异。
结论
因apoB截短至全长80%的突变而杂合的FHBL受试者能够正常产生VLDL - apoB，但这些颗粒清除迅速，导致循环中apoB水平较低。
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