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

dc.rights.licenseAtribución-NoComercial-SinDerivadas 4.0 Internacional
dc.contributor.advisorArboleda Granados, Humberto
dc.contributor.authorRodríguez Angarita, Óscar Gerardo
dc.date.accessioned2020-02-13T12:20:15Z
dc.date.available2020-02-13T12:20:15Z
dc.date.issued2018
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/75585
dc.description.abstractEl 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.
dc.description.abstractIntroduction: 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 coexpression
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dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.rightsDerechos reservados - Universidad Nacional de Colombia
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddcNeurociencias
dc.titleAspectos epigenéticos del gen BTBD3 en niños diagnosticados con TDAH en una muestra de pacientes colombianos
dc.typeDocumento de trabajo
dc.rights.spaAcceso abierto
dc.description.additionalMagister en Neurociencias.
dc.type.driverinfo:eu-repo/semantics/workingPaper
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dc.contributor.researchgroupGrupo de Neurociencias
dc.description.degreelevelMaestría
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotá
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.subject.proposalADHD
dc.subject.proposalTDAH
dc.subject.proposalMethylation
dc.subject.proposalMetilación
dc.subject.proposalPPi
dc.subject.proposalPPi
dc.subject.proposalBTBD3
dc.subject.proposalBTBD3
dc.subject.proposalTopological destabilization
dc.subject.proposalDesestabilización topológica
dc.subject.proposalBSP PCR
dc.subject.proposalBSP PCR
dc.subject.proposalAnálisis de expresión
dc.subject.proposalExpression analysis
dc.type.coarhttp://purl.org/coar/resource_type/c_8042
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.contentText
dc.type.redcolhttp://purl.org/redcol/resource_type/WP
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2


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