Genetic disorders of lipoprotein metabolism

Deepak Bhatnagar, Jonathan Schofield, Handrean Soran

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Lipids, along with proteins and carbohydrates, play a major role in metabolism. They are defined as oils, waxes, fatty acids, and cholesterol. Lipids have a particular role in the physiology of energy metabolism and in the formation of steroid hormones. They are also involved in intracellular signaling, in modulating nerve function, and are responsible for the structural integrity of the cell membrane. In addition, they regulate processes such as protein modification and inflammation. To enable such a diverse range of functions, the pathways of lipid metabolism are closely regulated and also integrated with nonlipid pathways. In order to transport lipids through a predominantly aqueous environment in the body, they are complexed with proteins called apolipoproteins to form macromolecular structures called lipoproteins. The apolipoproteins also function as ligands to enable the interaction between lipoproteins and their receptors and play a role as inhibitors or cofactors for enzymes involved in lipid metabolism.

Original languageEnglish
Title of host publicationClinical Molecular Medicine
Subtitle of host publicationPrinciples and Practice
PublisherElsevier BV
Chapter14
Pages245-265
Number of pages21
ISBN (Electronic)9780128093566
ISBN (Print)9780128094426
DOIs
Publication statusPublished - 1 Jan 2019

Keywords

  • Hypercholesterolemia
  • Hypertriglyceridemia
  • Lipoprotein
  • Low-density lipoproteins
  • Single-gene mutation
  • Xanthomata

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