title: Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.
abstract: Down syndrome is the most frequent aneuploidy in live births, with an overall frequency of 1/600-700 births. The overexpression of cystathionine β-synthase is thought to participate in the presentation of some phenotypes observed in Down syndrome.
  
  
  OBJECTIVE
  The aim of this study was to compare the expression levels of cystathionine β-synthase and histopathological observations from placentas of infants with Down syndrome and healthy newborns.
  
  
  METHODS
  Six placentas of fetuses/infants with Down syndrome and sixteen placentas of healthy fetuses were studied. Cystathionine β-synthase mRNA and protein expression were performed by real-time PCR and immunohistochemistry, respectively.
  
  
  RESULTS
  We observed an increase in cystathionine β-synthase mRNA expression (p = 0.0465) and protein levels (p = 0.009) in placentas of fetus/infants with Down syndrome compared with controls. Significantly more circinate edges (p = 0.0007) and trophoblast inclusions (p = 0.0037) were observed in the group with Down syndrome compared with control group.
  
  
  CONCLUSIONS
  The results demonstrate overexpression of cystathionine β-synthase mRNA and protein in placentas of fetuses/infants with trisomy 21. Further histological abnormalities were found in placentas of patients with Down syndrome, suggesting an alteration in the development of placenta.
authors.affiliation: Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
authors.forename: J Martínez
authors.initials: JM
authors.lastname: Pinilla
authors.affiliation: Institute in Human Genetics, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
authors.forename: P
authors.initials: P
authors.lastname: Ayala-Ramírez
authors.affiliation: Nutrition, Genetics and Metabolism Research Institute, Universidad el Bosque, Bogotá D.C., Colombia.
authors.forename: R
authors.initials: R
authors.lastname: García-Robles
authors.affiliation: Hospital Universitario San Ignacio, Pontificia Universidad Javeriana, Bogota D.C., Colombia.
authors.forename: M
authors.initials: M
authors.lastname: Olaya-C
authors.affiliation: Institute in Human Genetics, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
authors.forename: M
authors.initials: M
authors.lastname: Bermúdez
mesh_terms: D003105:Colombia / Q000453:epidemiology; D003541:Cystathionine beta-Synthase / Q000378:metabolism*; D004314:Down Syndrome / Q000201:enzymology*; D005260:Female; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D035683:MicroRNAs / Q000378:metabolism*; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D035683:MicroRNAs; D003541:Cystathionine beta-Synthase
keywords: Cystathionine β-synthase; Down syndrome; placenta