n del gen ATXN2, nuevo marcador de susceptibilidad para diabetes mellitus tipo 2

Objective. Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). Methods. Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining. Results. (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes. Conclusions. The results suggest that the (CAG)n repeat of the ATXN2 gene could be a causal factor for type 2 DM. Key words Ataxin-2; diabetes mellitus type 2; obesity; insuline receptor; non-alcoholic fatty liver disease. Objetivo. Estimar si hay asociacion del repetido (CAG)n del gen ATXN2 en poblacion mexicana con diabetes mellitus (DM) tipo 2. Metodos. Estudio epidemiologico de casos y controles. Se incluyeron personas sanas y personas diabeticas. La deteccion de la expansion (CAG)n se realizo por reaccion en cadena de la polimerasa (PCR)-punto final. Los productos de PCR se analizaron mediante electroforesis (PAGE al 8%) y tincion con nitrato de plata. Resultados. La distribucion de alelos del trinucleotido (CAG)n en la poblacion analizada resulto similar a la reportada en el centro del pais. El alelo mas frecuente es el de 22 repetidos; sin embargo, hay asociacion con los portadores de los repetidos largos dentro del rango normal con diabetes. Conclusiones. Los resultados sugieren que el repetido (CAG)n del gen de ATXN2 podria ser un factor causal de DM tipo 2. Palabras clave Ataxina-2; diabetes mellitus tipo 2; obesidad; receptor de insulina; esteatosis hepatica no alcoholica.