Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia

• Published in: Biomédica
• Main Authors: Jimena Jaramillo, Juan M. Solano, Alejandra Aristizábal, Juliana Martínez
• Format: Article in Journal/Newspaper
• Language: English; Spanish
• Published: Instituto Nacional de Salud 2022
• Subjects: amyotrophic lateral sclerosis/genetics; neurodegenerative disease; genes; mutations; Medicine; R; Arctic medicine. Tropical medicine; RC955-962; Arctic
• Online Access: https://doi.org/10.7705/biomedica.6060; https://doaj.org/article/593ea90bac4d438bb68293b43230ad99

Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; however, there is no published genetic study to date in Colombia. Despite its unknown etiopathogenesis, more genetic risk factors possibly involved in the development of this disease are constantly found. Objetives: To evaluate G93A and D90A mutations in SOD1 gene and a short tandem repeat in C9orf72 within a cohort of amyotrophic lateral sclerosis patients from Antioquia, Colombia. Materials y methods: Thirty-four patients previously diagnosed with amyotrophic lateral sclerosis were included in the study. Peripheral blood samples were used for DNA extraction and genotyping. Results: No mutations were found in SOD1 (G93A and D90A) in any of the patients, while C9orf72 exhibited an allele with a statistically significant high prevalence in the study sample (8 hexanucleotide repeats of CAGCAG). Conclusions: These results suggest an association between this short tandem repeat (STR) in C9orf72 and the presence of amyotrophic lateral sclerosis in the studied population. However, this association should be established in a larger sample size and with controls from the same population. In addition, there also seems to be a genetic anticipation effect for the disease regarding this locus, since patients with this genotype present an earlier onset.