Header

UZH-Logo

Maintenance Infos

Lipoproteins


Hersberger, Martin; Rohrer, Lucia; von Eckardstein, Arnold (2008). Lipoproteins. In: Blau, Nenad; Duran, Marinius; Gibson, K Michael. The Laboratory Guide to the Methods in Biochemical Genetics. Berlin, Heidelberg: Springer, 497-548.

Abstract

Lipoproteins function as vehicles to transport the non-water-soluble lipids in blood as complexes of lipids and proteins. The lipid moiety consists mainly of triglycerides, cholesterol, and phospholipids. The protein moiety consists mainly of apolipoproteins, which act as detergents. In addition several enzymes, lipid transfer proteins, receptors and transporters contribute to the metabolism of lipoproteins. Monogenic dyslipoproteinemias can generally be grouped into five categories: (1) severe hypertriglyceridemia with an isolated increase in chylomicrons and/or VLDL and an increased risk of pancreatitis and fatty liver disease, (2) mixed hyperlipidemia with an increase in chylomicron and VLDL remnants and an increased risk of premature atherosclerosis, (3) hypercholesterolemia with an increase in LDL and an increased risk for premature atherosclerosis, (4) hypoalphalipoproteinemia with low HDL and an increased risk for premature atherosclerosis and, depending on the molecular defect, corneal opacities, hepatosplenomegaly, renal failure or peripheral neuropathy, and (5) hypolipoproteinemia with a severe decrease in VLDL and LDL and an increased risk of retinal or neurological disease and fatty liver. Thus, the class of lipoproteins that is increased or decreased has a strong impact on the clinical presentation and prognosis of a patient. We describe methods used for a closer biochemical or cell biological classification of the phenotype and for the determination of the responsible genetic alterations leading to the various monogenic dyslipoproteinemias.

Abstract

Lipoproteins function as vehicles to transport the non-water-soluble lipids in blood as complexes of lipids and proteins. The lipid moiety consists mainly of triglycerides, cholesterol, and phospholipids. The protein moiety consists mainly of apolipoproteins, which act as detergents. In addition several enzymes, lipid transfer proteins, receptors and transporters contribute to the metabolism of lipoproteins. Monogenic dyslipoproteinemias can generally be grouped into five categories: (1) severe hypertriglyceridemia with an isolated increase in chylomicrons and/or VLDL and an increased risk of pancreatitis and fatty liver disease, (2) mixed hyperlipidemia with an increase in chylomicron and VLDL remnants and an increased risk of premature atherosclerosis, (3) hypercholesterolemia with an increase in LDL and an increased risk for premature atherosclerosis, (4) hypoalphalipoproteinemia with low HDL and an increased risk for premature atherosclerosis and, depending on the molecular defect, corneal opacities, hepatosplenomegaly, renal failure or peripheral neuropathy, and (5) hypolipoproteinemia with a severe decrease in VLDL and LDL and an increased risk of retinal or neurological disease and fatty liver. Thus, the class of lipoproteins that is increased or decreased has a strong impact on the clinical presentation and prognosis of a patient. We describe methods used for a closer biochemical or cell biological classification of the phenotype and for the determination of the responsible genetic alterations leading to the various monogenic dyslipoproteinemias.

Statistics

Citations

Dimensions.ai Metrics

Altmetrics

Downloads

6 downloads since deposited on 29 Dec 2008
0 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Book Section, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > General Medicine
Language:English
Date:31 May 2008
Deposited On:29 Dec 2008 11:23
Last Modified:02 Jan 2024 08:14
Publisher:Springer
ISBN:978-3-540-76697-1
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/978-3-540-76698-8_25
Other Identification Number:eBook ISBN: 978-3-540-76698-8