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
Assuntos:	Microcefalia Instabilidade genômica Micronúcleos e desordens neurodesenvolvimentais Microcephaly Genomic instability Micronuclei and neurodevelopmental disorders
Endereço do item:	https://repositorio.ufrn.br/handle/123456789/43193
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id	ri-123456789-43193
record_format	dspace
institution	Repositório Institucional
collection	RI - UFRN
language	pt_BR
topic	Microcefalia Instabilidade genômica Micronúcleos e desordens neurodesenvolvimentais Microcephaly Genomic instability Micronuclei and neurodevelopmental disorders
spellingShingle	Microcefalia Instabilidade genômica Micronúcleos e desordens neurodesenvolvimentais Microcephaly Genomic instability Micronuclei and neurodevelopmental disorders Jordão, Larissa Alves Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte
description	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.
author2	Amaral, Viviane Souza do
author_facet	Amaral, Viviane Souza do Jordão, Larissa Alves
format	bachelorThesis
author	Jordão, Larissa Alves
author_sort	Jordão, Larissa Alves
title	Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte
title_short	Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte
title_full	Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte
title_fullStr	Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte
title_full_unstemmed	Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte
title_sort	avaliação da instabilidade genômica em crianças com microcefalia do rio grande do norte
publisher	Universidade Federal do Rio Grande do Norte
publishDate	2019
url	https://repositorio.ufrn.br/handle/123456789/43193
work_keys_str_mv	AT jordaolarissaalves avaliacaodainstabilidadegenomicaemcriancascommicrocefaliadoriograndedonorte
_version_	1773966098094358528
spelling	ri-123456789-431932022-12-29T16:21:36Z Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte Jordão, Larissa Alves Amaral, Viviane Souza do Medeiros, Silvia Regina Batistuzzo de Moreira, Susana Margarida Gomes Microcefalia Instabilidade genômica Micronúcleos e desordens neurodesenvolvimentais Microcephaly Genomic instability Micronuclei and neurodevelopmental disorders 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. CNPq A microcefalia é caracterizada por uma redução das circunferências cefálica ou occipitofrontal. Devido à sua complexa etiologia, requer uma adequada manutenção da estabilidade genômica em prol de que os processos de neurogênese ocorram eficientemente. Prejuízos nestes mecanismos podem implicar na viabilidade celular e promover uma redução da área cortical. Com base nisso, o estudo da frequência de biomarcadores citogenéticos se torna relevante a fim de que se possa contribuir na explanação de fatores de riscos associados ao desenvolvimento desta malformação. O estudo foi feito por meio do Teste Citoma de Micronúcleo em Células da Mucosa Bucal (BMCyt) em 52 pacientes portadores de microcefalia e em 35 crianças sem esta malformação. Observou-se que crianças com microcefalia apresentaram maior frequência de células basais, binucleadas, com cromatina condensada, com cariorrexe e micronúcleos; além de uma menor frequência de células diferenciadas (p < 0,05). Não foram observadas diferenças significativas quanto às células cariolíticas, brotos nucleares e broken eggs (p > 0,05). Não foi verificada associação da frequência destes biomarcadores quanto ao sexo, idade, severidade da malformação ou Zika vírus (p > 0,05). No grupo controle, observou-se uma relação diretamente proporcional da idade com a frequência de células diferenciadas e inversamente proporcional, com cariorrexe, cromatina condensada, picnólise, cariólise e brotos nucleares (p < 0,05). Outros fatos observados foram a relação da frequência de células picnóticas e o histórico de aborto espontâneo (Rhô Spearman = 0.285, p < 0,05), e de células com cromatina condensada com o histórico de infecção por Zika vírus (p < 0,05). Os resultados encontrados sugerem que crianças com microcefalia possuem uma alta frequência de biomarcadores relacionados com atividade proliferativa celular, falhas na citocinese e morte celular. Este fato corrobora os dados da literatura que indicam que processos associados com falhas na segregação cromossômica, atrasos e/ou paradas no ciclo celular e apoptose, podem reduzir o número de células neuronais durante a rápida proliferação na neurogênese. Dessa forma, os informes obtidos contribuem com novas evidências a nível epidemiológico e citogenético para as pesquisas acerca do assunto e podem ser aplicados no atendimento e cuidado à saúde de crianças com microcefalia. 2019-06-17T12:08:17Z 2021-10-06T11:15:45Z 2019-06-17T12:08:17Z 2021-10-06T11:15:45Z 2019-05-28 bachelorThesis 20150128556 JORDÃO, Larissa Alves. Avaliação da instabilidade genômica em crianças com microcefalia do Rio Grande do Norte. 2019. 77f. Trabalho de Conclusão de Curso (Graduação em Biomedicina) - Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, 2019. https://repositorio.ufrn.br/handle/123456789/43193 pt_BR application/pdf Universidade Federal do Rio Grande do Norte Brasil UFRN Biomedicina

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

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