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

Abstract

Introduction. Neurodegenerative diseases such as Alzheimer's and Parkinson's are associated with genetic and environmental factors, including exposure to mercury (Hg), a heavy metal with neurotoxic effects.
Objectives. To identify and analyze alleles and genes linked to neurodegenerative diseases in relation to mercury exposure in Colombia.
Materials and methods. Scientific literature and population genotype data from public databases were reviewed, covering 94 Colombian adults genotyped under the CLM reference (Medellín, Antioquia). 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, and GPX4) with 18 polymorphisms distributed across ten chromosomes were analyzed using the SNPstat program. The chi-square test was applied to evaluate Hardy-Weinberg equilibrium (HWE), considering deviations with p<0.05 as significant.
Results. 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 (GSH) metabolism and Hg transport and excretion pathways.
Conclusions. Genetic alterations or their expression involving Hg bioaccumulation, its crossing of the blood-brain barrier (BBB), central nervous system (CNS) inflammation, and oxidative stress from reactive oxygen and nitrogen species (ROS and RNS) increase the risk of developing Alzheimer's and Parkinson's disease.