Services on Demand
Journal
Article
Indicators
Cited by SciELO
Access statistics
Related links
Similars in SciELO
Share
Gaceta médica de México
On-line version ISSN 2696-1288Print version ISSN 0016-3813
Abstract
RAMIREZ-GARCIA, Sergio Alberto et al. Ataxina-2, nuevo blanco en enfermedades genéticas complejas. Gac. Méd. Méx [online]. 2019, vol.155, n.1, pp.58-62. Epub July 01, 2021. ISSN 2696-1288. https://doi.org/10.24875/gmm.18003473.
The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.
Keywords : Ataxin 2; Glaucoma; Inflammation; Microcirculation; Parkinsonism.