Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy

Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy

Autor Guilheiro, Joice Marques Autor UNIFESP Google Scholar
Chaves, Marcelo Donizetti Autor UNIFESP Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Ribeiro, Daniel Araki Autor UNIFESP Google Scholar
D'Almeida, Vania Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo Background and objectives: the aim of this study was to evaluate genotoxicity and mutagenicity in peripheral blood and buccal mucosal cells in mucopolysaccharidosis (MPS) I, II or VI patients.Methods: A total of 12 patients with MPS type I, II and VI attended at the Institute of Genetics and Inborn Errors of Metabolism treated with enzyme replacement therapy (ERT) and 10 healthy control volunteers were included in this study. Mechanically exfoliated cells from cheek mucosa (left and right side) were used to micronucleus test and single cell gel (comet) assay in peripheral blood cells.Results: the results of this study detected the presence of genetic damage in peripheral blood for all individuals with MPS treated with ERT, regardless of type of MPS as depicted by tail moment results. in addition, an increased number of micronucleated cells were found in buccal cells of MPS type II patients. It was also observed an increase of other nuclear alterations closely related to cytotoxicity as depicted by the frequency of pyknosis, karyolysis and karyorrhexis in buccal mucosa cells of MPS VI patients (p<0.05).Conclusion: Taken together, such results demonstrate that metabolic alterations induced by the enzymatic deficiency characteristic of MPS associated with ERT therapy can induce genotoxicity and mutagenicity in peripheral blood and buccal mucosa cells, respectively. This effect appears to be more pronounced to MPS II.
Assunto Comet assay
genetic damage
micronucleus test
mucopolyssacharodosis
Idioma Inglês
Financiador Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Data 2014-12-01
Publicado em Toxicology Mechanisms and Methods. London: Informa Healthcare, v. 24, n. 8, p. 603-607, 2014.
ISSN 1537-6516 (Sherpa/Romeo, fator de impacto)
Editor Informa Healthcare
Extensão 603-607
Fonte http://dx.doi.org/10.3109/15376516.2014.956913
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000344363200010
URI http://repositorio.unifesp.br/handle/11600/38540

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