Abstract

BELTRAN, Christian José Cabrera  and  SOLANO, Freddy Damián Castillo. Polymorphism (cag) of the atxn2 gene as a risk factor related to type 2 diabetes mellitus. Vive Rev. Salud [online]. 2023, vol.6, n.16, pp.309-321.  Epub Feb 14, 2023. ISSN 2664-3243.  https://doi.org/10.33996/revistavive.v6i16.228.

Diabetes mellitus type 2 (DM2) is one of the most prevalent pathologies worldwide, it is estimated that about 425 million inhabitants currently live with DM2 according to WHO, the importance of molecular tests that allow early diagnosis involves the analysis of several groups of genes involved in the diabetic phenotype with marked insulin resistance and in most cases obesity, among which are the CAG(n) polymorphism in the ATXN2 gene found on chromosome 12q24. Objective. To know the current status of the ATXN2 gene in relation to the variable number of tandem repeats (VNTR) of the CAG(n) trinucleotide and its possible association with the development of type 2 diabetes mellitus. Methodology. A systematic review was carried out by searching for information in PubMed, Google Scholar and Elsevier databases. For this purpose, relevant keywords, such as "type 2 diabetes mellitus", "CAG polymorphism" and "ATXN2 gene" were combined with "Epigenetics of DM2". Original articles and experimental studies published in high impact journals were selected using Scimago Journal Ranks to ensure the quality of the reviewed literature. Conclusion. The relationship between ATXN2 and VNTR CAG(n) was determined and the transcriptional activity of the gene in DM2 and other neurodegenerative pathologies is evident. However, in order to go deeper into this topic, it is necessary to expand the field of study in Ecuador and in other Latin American countries, in order to analyze the genetic variability and its possible relationship with DM2 in this population.

Keywords : Diabetes Mellitus, Type; Epigenomics; Polymorphism; Genetic.

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