期刊
NATURE REVIEWS ENDOCRINOLOGY
卷 11, 期 6, 页码 352-362出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrendo.2015.26
关键词
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资金
- Jacob J. Wolfe Distinguished Medical Research Chair
- Martha Blackburn Chair in Cardiovascular Research
- Canadian Institutes for Health Research [MOP-13430, MOP-79533]
- Heart and Stroke Foundation of Ontario [T6066, 000353]
- Genome Canada through Genome Quebec
This Review discusses new developments in understanding the basis of chylomicronaemia-a challenging metabolic disorder for which there is an unmet clinical need. Chylomicronaemia presents in two distinct primary forms. The first form is very rare monogenic early-onset chylomicronaemia, which presents in childhood or adolescence and is often caused by homozygous mutations in the gene encoding lipoprotein lipase (LPL), its cofactors apolipoprotein C-II or apolipoprotein A-V, the LPL chaperone lipase maturation factor 1 or glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1. The second form, polygenic late-onset chylomicronaemia, which is caused by an accumulation of several genetic variants, can be exacerbated by secondary factors, such as poor diet, obesity, alcohol intake and uncontrolled type 1 or type 2 diabetes mellitus, and is more common than early-onset chylomicronaemia. Both forms of chylomicronaemia are associated with an increased risk of life-threatening pancreatitis; the polygenic form might also be associated with an increased risk of cardiovascular disease. Treatment of chylomicronaemia focuses on restriction of dietary fat and control of secondary factors, as available pharmacological therapies are only minimally effective. Emerging therapies that might prove more effective than existing agents include LPL gene therapy, inhibition of microsomal triglyceride transfer protein and diacylglycerol O-acyltransferase 1, and interference with the production and secretion of apoC-III and angiopoietin-like protein 3.
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