title: Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.
abstract: We analyzed placental tissue in one fetus with MPS II (iduronate sulphatase deficiency) and another with MPS VI (arylsulfatase B deficiency). Both were diagnosed prenatally, but families decided to continue pregnancies and placentas were collected at birth. We were able to demonstrate early storage of GAGs in both diseases by GAG measurement and microscopy analysis. Our results suggest that some alterations related to MPS storage, although not pronounced, may be observed in placental tissue of patients affected by MPS II and MPS VI.
authors.affiliation: Gene Therapy Center, Hospital de Clinicas, Porto Alegre, Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Baldo
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
authors.forename: Osvaldo
authors.initials: O
authors.lastname: Artigalas
authors.forename: Ida Vanessa
authors.initials: IV
authors.lastname: Schwartz
authors.forename: Maira Graeff
authors.initials: MG
authors.lastname: Burin
authors.forename: Erlane
authors.initials: E
authors.lastname: Ribeiro
authors.forename: Dafne
authors.initials: D
authors.lastname: Horovitz
authors.forename: Tatiana Pacheco
authors.initials: TP
authors.lastname: Magalhaes
authors.forename: Milan
authors.initials: M
authors.lastname: Elleder
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000328:Adult; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000201:enzymology*; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000201:enzymology*; D010920:Placenta / Q000503:physiopathology* / Q000648:ultrastructure; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D006025:Glycosaminoglycans