Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18

Wayne W.K. Lam, J. Kirk, N. Manning, W. Reardon, R. I. Kelley, D. FitzPatrick

Research output: Contribution to journalArticlepeer-review

Abstract

We report a series of neonates and foetuses with trisomy 18 and abnormally low cholesterol levels and propose that down regulation of cholesterol synthesis in trisomy 18 is, in part, responsible for its phenotype. Cholesterol is a major structural lipid of cell membranes, as well as the precursor of steroid hormones and bile acids. Several human malformation syndromes have been identified biochemically as disorders of cholesterol biosynthesis. Trisomy 18, a multi-system malformation syndrome, has clinical features that overlap with those of disorders of cholesterol biosynthesis and dysregulation of this pathway may have a role in the developmental pathology.

Original languageEnglish (US)
Pages (from-to)195-199
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume49
Issue number2
DOIs
StatePublished - Mar 2006

Keywords

  • Cholesterol
  • Edwards
  • Smith-Lemli-Opitz
  • Sterol biosynthesis
  • Trisomy 18

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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