Genetic Variability in Cholesterol Metabolism (original) (raw)

2020

Abstract

Cholesterol biosynthesis is a highly conserved metabolic process. However, genetic variability in cholesterol metabolism contributes to both rare congenital disorders and common chronic conditions. In the post-lanosterol cholesterol biosynthesis pathway, ten enzymes are associated with rare disorders including Greenberg skeletal dysplasia, Pelger–Huet anomaly, CHILD syndrome, Conradi–Hunermann syndrome, lathosterolosis, Smith–Lemli–Opitz syndrome, and desmosterolosis. In addition to these profound dominant and recessive congenital disorders, common genetic variability, in particular, single nucleotide polymorphisms (SNPs), in the genes encoding these enzymes is associated with common chronic diseases such as cancer, diabetes, blood pressure, hepatitis C progression, and Alzheimer’s disease. We will discuss the genetic causes of rare disorders in the post-squalene cholesterol biosynthesis pathway and the chronic disease effects of common genetic variability in this pathway.

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