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PLACENTA ANALYSIS OF PRENATALLY DIAGNOSED PATIENTS REVEALS EARLY GAG STORAGE IN MUCOPOLYSACCHARIDOSES II AND VI
Baldo, Guilherme et al. | Date Issued: 2011
Author
Baldo, Guilherme
Matte, Ursula
Artigalas, Osvaldo
Schwartz, Ida Vanessa
Burin, Maira Graeff
Ribeiro, Erlane
Horovitz, Dafne Dain Gandelman
Magalhaes, Tatiana Pacheco
Elleder, Milan
Giugliani, Roberto
Affilliation
Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Biológicas: Bioquímica. Porto Alegre, RS, Brasil.
Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil.
Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil.
Hospital de Clinicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil.
Hospital de Clinicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil.
Hospital Geral Cesar Cals. Fortaleza, CE, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
Institute of Inherited Metabolic Disorders. Prague, Czech Republic.
Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Biológicas: Bioquímica. Porto Alegre, RS, Brasil / Hospital de Clinicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil.
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.
Keywords
Mucopolysaccharidoses
Hunter Syndrome
Maroteaux–Lamy Syndrome
Prenatal Diagnosis
Glycosaminoglycans
Lysosomal Storage Diseases
 
DeCS
Mucopolissacaridoses
Mucopolissacaridose II
Mucopolissacaridose VI
Diagnóstico Pré-Natal
Glicosaminoglicanas
Doenças por Armazenamento dos Lisossomos
 
Publisher
Academic Press
Citation
BALDO, Guilherme. et al. Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI. Molecular Genetics and Metabolism, Orlando, v. 103, p. 197-198, 2011.
DOI
10.1016/j.ymgme.2011.03.002
ISSN
1096-7192