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 Show more
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 MedellĂn) 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. Show less
We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 Show more
We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members. Show less