Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Guilherme Baldo; Ursula Matte; Osvaldo Artigalas; Ida Vanessa Schwartz; Maira Graeff Burin; Erlane Ribeiro; Dafne Horovitz; Tatiana Pacheco Magalhaes; Milan Elleder; Roberto Giugliani

doi:10.1016/j.ymgme.2011.03.002

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Mol Genet Metab. 2011 Jun;103(2):197-8. doi: 10.1016/j.ymgme.2011.03.002. Epub 2011 Mar 22.

Authors

Guilherme Baldo¹, Ursula Matte, Osvaldo Artigalas, Ida Vanessa Schwartz, Maira Graeff Burin, Erlane Ribeiro, Dafne Horovitz, Tatiana Pacheco Magalhaes, Milan Elleder, Roberto Giugliani

Affiliation

¹ Gene Therapy Center, Hospital de Clinicas, Porto Alegre, Brazil.

PMID: 21427013
DOI: 10.1016/j.ymgme.2011.03.002

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Glycosaminoglycans / metabolism*
Humans
Infant, Newborn
Mucopolysaccharidosis II / diagnosis*
Mucopolysaccharidosis II / enzymology*
Mucopolysaccharidosis IV / diagnosis*
Mucopolysaccharidosis IV / enzymology*
Placenta / physiopathology*
Placenta / ultrastructure
Pregnancy
Prenatal Diagnosis*

Substances

Glycosaminoglycans