Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos

El TDAH es un trastorno comportamental altamente heredable, persistente y frecuente. La etiología del trastorno no está clara. Sin embargo, se han descrito similitudes neuroanatómicas entre trastorno de déficit de atención e hiperactividad (TDAH), trastorno obsesivo compulsivo (TOC) y espectro autis...

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Autores:: Rodríguez Angarita, Óscar Gerardo

Tipo de recurso:: Work document

Fecha de publicación:: 2018

Institución:: Universidad Nacional de Colombia

Repositorio:: Universidad Nacional de Colombia

Idioma:: spa

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network_acronym_str	UNACIONAL2
network_name_str	Universidad Nacional de Colombia
repository_id_str
dc.title.spa.fl_str_mv	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
title	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
spellingShingle	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos Neurociencias ADHD Methylation PPi BTBD3 Topological destabilization BSP PCR Expression analysis TDAH Metilación PPi BTBD3 Desestabilización topológica BSP PCR Análisis de expresión
title_short	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
title_full	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
title_fullStr	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
title_full_unstemmed	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
title_sort	Aspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
dc.creator.fl_str_mv	Rodríguez Angarita, Óscar Gerardo
dc.contributor.advisor.spa.fl_str_mv	Arboleda Granados, Humberto
dc.contributor.author.spa.fl_str_mv	Rodríguez Angarita, Óscar Gerardo
dc.contributor.researchgroup.spa.fl_str_mv	Grupo de Neurociencias
dc.subject.ddc.spa.fl_str_mv	Neurociencias
topic	Neurociencias ADHD Methylation PPi BTBD3 Topological destabilization BSP PCR Expression analysis TDAH Metilación PPi BTBD3 Desestabilización topológica BSP PCR Análisis de expresión
dc.subject.proposal.eng.fl_str_mv	ADHD Methylation PPi BTBD3 Topological destabilization BSP PCR Expression analysis
dc.subject.proposal.spa.fl_str_mv	TDAH Metilación PPi BTBD3 Desestabilización topológica BSP PCR Análisis de expresión
description	El TDAH es un trastorno comportamental altamente heredable, persistente y frecuente. La etiología del trastorno no está clara. Sin embargo, se han descrito similitudes neuroanatómicas entre trastorno de déficit de atención e hiperactividad (TDAH), trastorno obsesivo compulsivo (TOC) y espectro autista (EA). Por otra parte, se encontrado asociación significativa entre variantes genómicas en el gen BTBD3 y TOC y áreas diferencialmente metiladas en este mismo gen asociadas a TDAH. Este trabajo se propuso determinar el patrón de metilación de un área del gen BTBD3 en una muestra de pacientes Colombianos diagnosticados con TDAH. Adicionalmente se generaron comparaciones en los niveles de metilación en función de diversas variables clínicas. De manera complementaria, se desarrollaron análisis no considerados en los objetivos del trabajo, se generó un análisis de interacción proteína-proteína (PPi) alrededor del gen BTBD3 y un análisis de expresión y co-expresipon del gen en cerebro prenatal y adulto. Esto con el fin de tener un entendimiento más profundo de la función de BTBD3 en el neurodesarrollo y la conducta El diagnósticos de TDAH no se asocia con cambios en la metilación. Se observa relación de la metilación con estrés prenatal, el tipo de parto, estrés durante el embarazo, si fue o no un embarazo deseado, si hubo algún riesgo para el embarazo durante el tercer trimestre, tipo de parto enfermedades al nacer,tipo de alimentación, región de nacimiento edad del padre y de la madre. La red de interacciones entre proteínas está dominado por procesos asociados al metabolismo mediado por ubiquitinación. La desestabilización topológica mostró cambios significativos en topológica y enriquecimiento funcional. El análisis de expresión mostró que el gen BTBD3 tiende a estar más expresado en cerebro prenatal que en adulto pero con co-expresiones más débiles.
publishDate	2018
dc.date.issued.spa.fl_str_mv	2018
dc.date.accessioned.spa.fl_str_mv	2020-02-13T12:20:15Z
dc.date.available.spa.fl_str_mv	2020-02-13T12:20:15Z
dc.type.spa.fl_str_mv	Documento de trabajo
dc.type.driver.spa.fl_str_mv	info:eu-repo/semantics/workingPaper
dc.type.version.spa.fl_str_mv	info:eu-repo/semantics/acceptedVersion
dc.type.coar.spa.fl_str_mv	http://purl.org/coar/resource_type/c_8042
dc.type.content.spa.fl_str_mv	Text
dc.type.redcol.spa.fl_str_mv	http://purl.org/redcol/resource_type/WP
format	http://purl.org/coar/resource_type/c_8042
status_str	acceptedVersion
dc.identifier.uri.none.fl_str_mv	https://repositorio.unal.edu.co/handle/unal/75585
url	https://repositorio.unal.edu.co/handle/unal/75585
dc.language.iso.spa.fl_str_mv	spa
language	spa
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spelling	Atribución-NoComercial-SinDerivadas 4.0 InternacionalDerechos reservados - Universidad Nacional de ColombiaAcceso abiertohttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Arboleda Granados, Humberto28b95739-093f-410a-856a-a2fe75ee2d48-1Rodríguez Angarita, Óscar Gerardo8b88af4e-a559-4153-9844-88d30f430367Grupo de Neurociencias2020-02-13T12:20:15Z2020-02-13T12:20:15Z2018https://repositorio.unal.edu.co/handle/unal/75585El TDAH es un trastorno comportamental altamente heredable, persistente y frecuente. La etiología del trastorno no está clara. Sin embargo, se han descrito similitudes neuroanatómicas entre trastorno de déficit de atención e hiperactividad (TDAH), trastorno obsesivo compulsivo (TOC) y espectro autista (EA). Por otra parte, se encontrado asociación significativa entre variantes genómicas en el gen BTBD3 y TOC y áreas diferencialmente metiladas en este mismo gen asociadas a TDAH. Este trabajo se propuso determinar el patrón de metilación de un área del gen BTBD3 en una muestra de pacientes Colombianos diagnosticados con TDAH. Adicionalmente se generaron comparaciones en los niveles de metilación en función de diversas variables clínicas. De manera complementaria, se desarrollaron análisis no considerados en los objetivos del trabajo, se generó un análisis de interacción proteína-proteína (PPi) alrededor del gen BTBD3 y un análisis de expresión y co-expresipon del gen en cerebro prenatal y adulto. Esto con el fin de tener un entendimiento más profundo de la función de BTBD3 en el neurodesarrollo y la conducta El diagnósticos de TDAH no se asocia con cambios en la metilación. Se observa relación de la metilación con estrés prenatal, el tipo de parto, estrés durante el embarazo, si fue o no un embarazo deseado, si hubo algún riesgo para el embarazo durante el tercer trimestre, tipo de parto enfermedades al nacer,tipo de alimentación, región de nacimiento edad del padre y de la madre. La red de interacciones entre proteínas está dominado por procesos asociados al metabolismo mediado por ubiquitinación. La desestabilización topológica mostró cambios significativos en topológica y enriquecimiento funcional. El análisis de expresión mostró que el gen BTBD3 tiende a estar más expresado en cerebro prenatal que en adulto pero con co-expresiones más débiles.Introduction: ADHD is a behavioral disorder highly heritable, persistent and frequent. The etiology of the disorder is not clear. Nevertheless, neuroanatomical similarities has been described between attention deficit hyperactivity disorder ADHD, obsessive compulsive disorder (OCD) and autistic spectrum (AS). Moreover, there is significant association between genomic variants in BTBD3 and OCD and differentially methylated areas in the before mentioned gene associated to ADHD. This work attempt to determine the methylation pattern in a region of BTBD3 in a sample of Colombian patients diagnosed with ADHD. Additional, methylation was compared as function of clinical variables. in a complementary way, it was performed several not before considered analysis in the goals of the investigation, it was developed a protein-protein (PPi) interaction analysis surrounding the BTBD3 gene and an expression and coexpression analysis of the gene in the prenatal and adult brain. This with the goal get a more profound understanding of the BTBD3 function in the neurodevelopment and in the behavior The diagnosis of ADHD is not associated with changes in methylation. Relations are observed when diagnosis interact with prenatal stress, type of delivery, stress during pregnancy, if it was a desired pregnant, risks in the third trimester of pregnancy, type of delivery, diseases at birth, type of feeding, region of birth, age of father and mother. The network of interactions between proteins is dominated by metabolism mediated by ubiquitination. Topological destabilization showed significant changes in topological and functional enrichment. The expression analysis show than the BTBD3 gene tend to be more expressed in the prenatal brain than in the adult brain but with lower coexpressionMagister en Neurociencias.Maestría151application/pdfspaNeurocienciasADHDMethylationPPiBTBD3Topological destabilizationBSP PCRExpression analysisTDAHMetilaciónPPiBTBD3Desestabilización topológicaBSP PCRAnálisis de expresiónAspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianosDocumento de trabajoinfo:eu-repo/semantics/workingPaperinfo:eu-repo/semantics/acceptedVersionhttp://purl.org/coar/resource_type/c_8042Texthttp://purl.org/redcol/resource_type/WPUniversidad Nacional de Colombia - Sede BogotáAdkins, R. M., Thomas, F., Tylavsky, F. A., & Krushkal, J. (2011). Parental ages and levels of DNA methylation in the newborn are correlated. BMC Medical Genetics, 12, 47. Allin, M. P. G., Salaria, S., Nosarti, C., Wyatt, J., Rifkin, L., & Murray, R. M. (2005). 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