{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T12:08:21Z","timestamp":1774613301906,"version":"3.50.1"},"reference-count":36,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"1","license":[{"start":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T00:00:00Z","timestamp":1772409600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>Introducci\u00f3n. Las enfermedades neurodegenerativas, por ejemplo la de Alzheimer y la de Parkinson, est\u00e1n asociadas con factores gen\u00e9ticos y ambientales como la exposici\u00f3n al mercurio, un metal pesado con efectos neurot\u00f3xicos.Objetivos. Identificar y analizar los alelos y genes vinculados a las enfermedades neurodegenerativas, en relaci\u00f3n con la exposici\u00f3n al mercurio en Colombia. Materiales y m\u00e9todos. Se recopil\u00f3 informaci\u00f3n de la literatura cient\u00edfica y, tambi\u00e9n, genotipos poblacionales de bases de datos p\u00fablicas, abarcando 94 adultos colombianos genotipificados bajo la referencia CLM (Colombians from Medell\u00edn). La trazabilidad de los datos se asegura mediante el registro ID en la base de datos del proyecto 1000 Genomas, garantizando el consentimiento informado y la aprobaci\u00f3n bio\u00e9tica. Se analizaron 11 genes (GSTP1, ATP7B, BDNF, GCLC, GCLM, MT1A, MT4, ABCC2, ABCB1, GPX1 y GPX4) con 18 polimorfismos distribuidos en 10 cromosomas, utilizando el programa SNPstatsTM. Se aplic\u00f3 la prueba de c\u00b2 para evaluar el equilibrio de Hardy-Weinberg, considerando significativas las desviaciones con p &lt; 0,05.Resultados. Los resultados demostraron una gran probabilidad de relaci\u00f3n entre las enfermedades neurodegenerativas, como la de Alzheimer y la de Parkinson, y la exposici\u00f3n al mercurio en personas que tienen variantes g\u00e9nicas relacionadas con el metabolismo del glutati\u00f3n o con las rutas metab\u00f3licas para el transporte y la excreci\u00f3n del mercurio.Conclusiones. La bioacumulaci\u00f3n de mercurio, el paso de la barrera hematoencef\u00e1lica, la inflamaci\u00f3n del sistema nervioso central y el estr\u00e9s oxidativo por especies reactivas de ox\u00edgeno y nitr\u00f3geno, repercuten en las alteraciones gen\u00e9ticas o su expresi\u00f3n y aumentan la posibilidad de desarrollar las enfermedades de Alzheimer y Parkinson.<\/jats:p>","DOI":"10.7705\/biomedica.7634","type":"journal-article","created":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T14:30:47Z","timestamp":1772807447000},"page":"30-47","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":0,"title":["Relaci\u00f3n entre la susceptibilidad a enfermedades neurodegenerativas y los factores gen\u00e9ticos en poblaciones expuestas al mercurio en Medell\u00edn, Colombia","Relationship between susceptibility to neurodegenerative diseases and genetic factors in populations exposed to mercury in Medell\u00edn, Colombia"],"prefix":"10.7705","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3062-7990","authenticated-orcid":false,"given":"Efr\u00e9n de Jes\u00fas","family":"Avenda\u00f1o","sequence":"first","affiliation":[{"name":"CBATA, Departamento de Ciencias B\u00e1sicas y \u00c1reas Comunes, Tecnol\u00f3gico de Antioquia Instituci\u00f3n Universitaria, Medell\u00edn, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3955-7761","authenticated-orcid":false,"given":"Andrea Paola","family":"Castillo","sequence":"additional","affiliation":[{"name":"CBATA, Departamento de Ciencias B\u00e1sicas y \u00c1reas Comunes, Tecnol\u00f3gico de Antioquia Instituci\u00f3n Universitaria, Medell\u00edn, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2026,3,2]]},"reference":[{"key":"158702","unstructured":"Segovia de Arana JM, Mora Teruel F. 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