Defects of cholesterol biosynthesis

FEBS Lett. 2006 Oct 9;580(23):5442-9. doi: 10.1016/j.febslet.2006.07.027. Epub 2006 Jul 20.

Abstract

Eight distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway following the finding of abnormally increased levels of intermediate metabolites in patients and confirmed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities underlining an important role for cholesterol in human embryogenesis and development. The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors.

Publication types

  • Review

MeSH terms

  • Animals
  • Cholesterol / biosynthesis*
  • Cholesterol / chemistry
  • Disease*
  • Gene Expression Regulation, Developmental
  • Humans
  • Terpenes / metabolism

Substances

  • Terpenes
  • Cholesterol