Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte

Microcephaly is a disorder characterized by the reduction of the cephalic or occipitofrontal circumferences. Due to its complex etiology, it requires an adequate maintenance of genomic stability in order to allow the neurogenesis processes to occur efficiently. Damage to these mechanisms could impai...

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Autor principal: Jordão, Larissa Alves
Outros Autores: Amaral, Viviane Souza do
Formato: bachelorThesis
Idioma:pt_BR
Publicado em: Universidade Federal do Rio Grande do Norte
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Endereço do item:https://repositorio.ufrn.br/handle/123456789/43193
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Resumo:Microcephaly is a disorder characterized by the reduction of the cephalic or occipitofrontal circumferences. Due to its complex etiology, it requires an adequate maintenance of genomic stability in order to allow the neurogenesis processes to occur efficiently. Damage to these mechanisms could impair cell viability and promote a reduction on cortical area. Based on this, the study of the frequency of cytogenetic biomarkers becomes relevant in order to contribute to the explanation of risk factors associated with the development of this malformation. The present study was performed using the Buccal Micronucleus Cytome Assay (BMCyt) in 52 patients with microcephaly and 35 control children. It was observed that microcephaly children had a higher frequency of basal, binucleated, pyknotic, condensed chromatin, karyorrhectic cells and micronucleus; and a lower frequency of differentiated cells (p < 0.05). No significant differences were detected on karyolytic cells, nuclear buds and broken eggs (p > 0.05). In addition, there were no association of these biomarkers frequency with sex, age, severity of this birth defect and Zika vírus infection (p > 0.05). However, only in the control group it was detected a directly proportional correlation of differentiated cells with age, and a inversely proportional correlation of age with the frequency of karyorrhectic, condensed chromatin, pyknotic, cariolytic cells and nuclear buds (p < 0.05). Another fact observed was a relation of piknotic cells frequency and the mother’s abortion history (Rhô Spearman = 0.285, p < 0.05), and cells with chromatin condensed with the history of Zika virus infection (p < 0.05). The results suggest that children with microcephaly have an intrinsic high frequency of biomarkers related to impaired cellular proliferative activity, cytokinesis failures and cell death. This fact corroborates with literature data indicating that processes associated with chromosomal segregation failures, cell cycle delays and apoptosis can reduce the number of neuronal cells during the rapid proliferation in neurogenesis. Thus, the data obtained may contribute with new epidemiological and cytogenetic evidence for research on the subject and could be applied in the preventive health care of children with microcephaly.