Relación entre el polimorfismo ANK3 (rs10994336) y el desempeño en pruebas neuropsicológicas en pacientes con trastorno afectivo bipolar. Una submuestra colombiana

dc.contributorArboleda Granados, Humberto
dc.contributorVásquez Rojas, Rafael Antonio
dc.creatorRomero Ibagón, Ana María
dc.date.accessioned2020-07-20T17:26:17Z
dc.date.available2020-07-20T17:26:17Z
dc.date.created2020-07-20T17:26:17Z
dc.date.issued2020-04-24
dc.identifierhttps://repositorio.unal.edu.co/handle/unal/77802
dc.description.abstractEl Trastorno Afectivo Bipolar (TAB) es una enfermedad neuropsiquiátrica que genera una serie de afectaciones cognitivas que pueden estar relacionadas a variantes genéticas poco estudiadas en la población bogotana. Debido a esto, el objetivo de este estudio fue analizar la relación entre SNP del gen ANK3 (rs10994336) y el TAB en una sub muestra de pacientes residentes en Bogotá. Para esto, se realizó un estudio descriptivo- comparativo de corte transversal en una población de 27 sujetos con TAB y 25 sujetos control pareados por edad, sexo y escolaridad. A todos los participantes se les realizó una completa valoración por neuropsicología, la construcción de un genograma con los antecedentes médicos en tres líneas generacionales y una toma de muestra de sangre para el análisis genético. Se observó que los pacientes con TAB tienen un desempeño significativamente menor a los sujetos control en tareas que miden la velocidad de procesamiento y la memoria anterógrada. Se encontró que los sujetos con TAB tienen un mayor número de antecedentes de enfermedades psiquiátricas en las tres generaciones familiares en relación a los sujetos control. No se encontró ninguna asociación del SNP estudiado con de las variables clínicas y familiares estudiadas. Se concluye que el perfil cognitivo del TAB en periodos de eutimia involucra una afectación en procesos ejecutivos y amnésicos. Sin embargo, esta afectación no se relación con el SNP estudiado, aunque siguen existiendo un componente genético que se puede observar por medio de los antecedentes de enfermedades psiquiátricas en las familias de los pacientes.
dc.description.abstractBipolar Affective Disorder (TAB) is a neuropsychiatric disease that generates a series of cognitive disorders that may be related to genetic variants little studied in the Bogota population. Due to this, the objective of this study was to analyze the relationship between SNP of the ANK3 gene (rs10994336) and the TAB in a sub-sample of patients residing in Bogotá. For this, a descriptive-comparative cross-sectional study was carried out in a population of 27 subjects with TAB and 25 control subjects matched by age, sex and education. All participants underwent a complete evaluation by neuropsychology, the genogram construction with the medical history of three generational lines and a blood sample for genetic analysis. Was found that patients with TAB have significantly lower performance than control subjects in tasks that measure speed process and long term memory. The subjects with TAB were found to have a greater number of medical history of psychiatric illnesses in the three family generations in relation to control subjects. No association of the SNP studied with the clinical and family variables studied was found. It is concluded that the cognitive profile of TAB in periods of euthymia involves an affectation in executive and amnesic processes. However, this affectation is not related to the SNP studied, although there is still a genetic component that can be observed through the history of psychiatric diseases in patient’s families.
dc.languagespa
dc.publisherBogotá - Medicina - Maestría en Neurociencias
dc.publisherUniversidad Nacional de Colombia - Sede Bogotá
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dc.titleRelación entre el polimorfismo ANK3 (rs10994336) y el desempeño en pruebas neuropsicológicas en pacientes con trastorno afectivo bipolar. Una submuestra colombiana
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