title: Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.
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.
authors.affiliation: South East of Scotland Clinical Genetics Service, MMC Building, Western General Hospital, Edinburgh EH4 2UX, UK. wayne.lam@ed.ac.uk
authors.forename: Wayne W K
authors.initials: WW
authors.lastname: Lam
authors.forename: J
authors.initials: J
authors.lastname: Kirk
authors.forename: N
authors.initials: N
authors.lastname: Manning
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: R I
authors.initials: RI
authors.lastname: Kelley
authors.forename: D
authors.initials: D
authors.lastname: Fitzpatrick
mesh_terms: D000653:Amniotic Fluid / Q000378:metabolism; D002784:Cholesterol / Q000096:biosynthesis* / Q000172:deficiency; D002887:Chromosomes, Human, Pair 18 / Q000378:metabolism*; D006801:Humans; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000378:metabolism; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002784:Cholesterol