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

Author 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
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords Comet assay
genetic damage
micronucleus test
mucopolyssacharodosis
Language English
Sponsor Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Date 2014-12-01
Published in Toxicology Mechanisms and Methods. London: Informa Healthcare, v. 24, n. 8, p. 603-607, 2014.
ISSN 1537-6516 (Sherpa/Romeo, impact factor)
Publisher Informa Healthcare
Extent 603-607
Origin http://dx.doi.org/10.3109/15376516.2014.956913
Access rights Closed access
Type Article
Web of Science ID WOS:000344363200010
URI http://repositorio.unifesp.br/handle/11600/38540

Show full item record




File

File Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account