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Relationship between susceptibility to neurodegenerative diseases and genetic factors in populations exposed to mercury in Medellín, Colombia.

PMID: 41875454 · DOI: 10.7705/biomedica.7634 · Biomedica : revista del Instituto Nacional de Salud, 2026 · Efrén de Jesús Avendaño, Andrea Paola Castillo
📄 Abstract

Neurodegenerative diseases such as Alzheimer’s and Parkinson’s are associated with genetic and environmental factors, including exposure to mercury, a heavy metal with neurotoxic effects. To identify and analyze alleles and genes linked to neurodegenerative diseases in relation to mercury exposure in Colombia. Scientific literature and population genotype data from public databases were reviewed, covering 94 Colombian adults genotyped under the CLM (Colombians from Medellín) reference. Data traceability was ensured through ID registration in the 1000 Genomes project database, guaranteeing informed consent and bioethical approval. Eleven genes (GSTP1, ATP7B, BDNF, GCLC, GCLM, MT1A, MT4, ABCC2, ABCB1, GPX1 y GPX4) with 18 polymorphisms distributed across ten chromosomes were analyzed using the SNPstatsTM program. The c² test was applied to evaluate the Hardy-Weinberg equilibrium, considering deviations with p < 0.05 as significant. The results showed a high probability of an association between neurodegenerative diseases such as Alzheimer’s and Parkinson’s and mercury exposure in individuals with genetic variants related to glutathione metabolism and mercury transport and excretion pathways. Genetic alterations or their expression involving mercury bioaccumulation, its crossing of the blood-brain barrier, central nervous system inflammation, and oxidative stress from reactive oxygen and nitrogen species increase the risk of developing Alzheimer’s and Parkinson’s disease.

Confidence: 0.04 · 2 полей извлечено
Идентификация (6 полей)
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Механизм действия (21 полей)
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SNPstatsTM program used for analysis of polymorphisms
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Genetic association
Analysis of 11 genes (GSTP1, ATP7B, BDNF, GCLC, GCLM, MT1A, MT4, ABCC2, ABCB1, GPX1, GPX4) with 18 polymorphisms in 94 Colombian adults; association between genetic variants and neurodegenerative diseases in mercury-exposed populations
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Клиника (11 полей)
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