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Gaceta médica de México

versão On-line ISSN 2696-1288versão impressa ISSN 0016-3813

Resumo

CERVANTES-ARAGON, Iván et al. Genetic approach in amyotrophic lateral sclerosis. Gac. Méd. Méx [online]. 2019, vol.155, n.5, pp.475-482.  Epub 01-Jul-2021. ISSN 2696-1288.  https://doi.org/10.24875/gmm.m20000335.

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.

Palavras-chave : Familial motor neuron disease; Muscle atrophy; Superoxide dismutase 1.

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