Caracterización clínica, asesoramiento genético y análisis genético molecular del gen HTT en núcleos familiares en riesgo para eh en el departamento del Atlántico y otras poblaciones del Caribe Colombiano
| datacite.rights | http://purl.org/coar/access_right/c_f1cf | |
| dc.contributor.advisor | Yáñez Torregrosa, Zuleima Isabel | |
| dc.contributor.author | Yáñez Torregrosa, Javier Antonio | |
| dc.date.accessioned | 2025-12-12T14:18:50Z | |
| dc.date.available | 2025-12-12T14:18:50Z | |
| dc.date.issued | 2025 | |
| dc.description.abstract | La Enfermedad de Huntington de Huntington (EH) es un trastorno neurodegenerativo autosómico dominante causado por la expansión del triplete CAG en el gen HTT (4p16.3), que produce una progresiva alteración motora, cognitiva y psiquiátrica. Aunque está reconocida como una enfermedad huérfana en Colombia, persisten profundas brechas en diagnóstico molecular, acceso a asesoramiento genético y atención especializada, especialmente en el Caribe colombiano, donde existen poblaciones históricamente afectadas y con transmisión intrafamiliar sostenida. El objetivo de este estudio fue caracterizar clínicamente a los individuos en riesgo, evaluar sus condiciones socio epidemiológicas y realizar el análisis molecular del gen HTT para determinar la distribución de repeticiones CAG, integrando además un proceso formal de asesoramiento genético dirigido a familias de los departamentos del Atlántico y Magdalena. Se incluyeron 59 participantes pertenecientes a 13 núcleos familiares con antecedente confirmado o presunto de EH. La caracterización clínica permitió identificar manifestaciones motoras, cognitivas y psiquiátricas consistentes con fases tempranas y avanzadas de la enfermedad, coherentes con la literatura según la cual los síntomas pueden iniciarse décadas antes del diagnóstico definitivo. Asimismo, se documentaron síntomas neuropsiquiátricos premotores, cuya presencia temprana puede anticipar la expansión patológica en personas presintomáticas. El componente socio epidemiológico evidenció vulnerabilidad estructural en las familias evaluadas: materiales de vivienda de bajo costo, hacinamiento, exposición a zonas de riesgo, empleos informales, limitaciones económicas y barreras de acceso al sistema de salud. Estos hallazgos son consistentes con estudios previos en comunidades afectadas del Caribe colombiano y explican en parte la continuidad silenciosa de la enfermedad entre generaciones. | spa |
| dc.description.abstract | Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene, leading to progressive motor, cognitive, and psychiatric decline. Although HD is officially recognized as a rare disease in Colombia, significant gaps remain in molecular diagnosis, genetic counseling, and specialized clinical care, especially in the Caribbean region, where several high-risk families have been historically identified. This study conducted clinical characterization, socio epidemiological assessment, and CAG repeat molecular analysis in 59 individuals from 13 families with confirmed or suspected HD in the departments of Atlántico and Magdalena. Clinical findings revealed motor and neuropsychiatric features consistent with early and advanced stages of the disease. Socio epidemiological evaluations showed structural vulnerability, limited access to health services, and socioeconomic constraints affecting disease management. Molecular analysis identified normal, intermediate, reduced penetrance, and fully penetrant alleles, supporting intergenerational instability and anticipation. Genetic counseling followed international protocols, improving understanding of inheritance, emotional preparedness, and reproductive decision-making. This integrative approach provides essential evidence for improving diagnostic pathways, public health strategies, and genetic counseling services for HD in the Colombian Caribbean and establishes a foundation for future research. | eng |
| dc.format.mimetype | ||
| dc.identifier.uri | https://hdl.handle.net/20.500.12442/17200 | |
| dc.language.iso | spa | |
| dc.publisher | Ediciones Universidad Simón Bolívar | spa |
| dc.publisher | Facultad de Ciencias Básicas y Biomédicas | spa |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | eng |
| dc.rights.accessrights | info:eu-repo/semantics/embargoedAccess | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject | Enfermedad de Huntington | spa |
| dc.subject | Asesoramiento genético | spa |
| dc.subject | Repeticiones CAG | spa |
| dc.subject | Análisis molecular | spa |
| dc.subject | Caribe colombiano | spa |
| dc.subject.keywords | Huntington’s disease | eng |
| dc.subject.keywords | Genetic counseling | eng |
| dc.subject.keywords | CAG repeats | eng |
| dc.subject.keywords | Molecular analysis | eng |
| dc.subject.keywords | Colombian Caribbean | eng |
| dc.title | Caracterización clínica, asesoramiento genético y análisis genético molecular del gen HTT en núcleos familiares en riesgo para eh en el departamento del Atlántico y otras poblaciones del Caribe Colombiano | spa |
| dc.type.driver | info:eu-repo/semantics/other | |
| dc.type.spa | Otros | |
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| dcterms.references | Campo Oviedo M del C, Baute Gamez LE. Grupos vulnerables, la responsabilidad del Estado de garantizarles el derecho a la salud: Huntington en comunidades de la región Caribe de Colombia. Perfiles de las Ciencias Sociales. 2016 Jul–Dec;4(7):56–99. Universidad Juárez Autónoma de Tabasco (UJAT) | spa |
| oaire.version | info:eu-repo/semantics/acceptedVersion | |
| sb.programa | Maestría en Genética | spa |
| sb.sede | Sede Barranquilla | spa |
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