title: Amylin S20G mutation in Mexican population.
abstract: Diabetes Mellitus type 2 (DM2) is a group of metabolic disorders characterized by defective insulin action or secretion or both with a 10.6% incidence in Mexican Mestizo population, DM2 is also classified within the localized misfolding diseases due to the amyloid pancreatic deposits found in 90% of the DM2 necropsies. The pancreatic amyloid main component is a protein known as human islet amyloid polypeptide (hIAPP) or amylin, the most common mutation is the S20G in Asian population with a polymorphic frequency in DM2 Asian patients. The aim of this study was to search this mutation in Mexican Mestizo general population (104) and DM2 patients (100). This is the first molecular study of hIAPP gene in Mexican population and in which we developed an alternative more effective antisense primer for the analysis of the NFGAILSS region in hIAPP exon 3 critical for the amyloid beta structure formation. We did not find the mutation in any of the 204 analyzed samples, thus the findings show that S20G is not a common mutation in Mexican Mestizo population.
authors.affiliation: Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social Guadalajara, Sierra Mojada No. 800, Colonia Independencia, S.L. CP. 44340, Guadalajara, Jalisco, México. clgarglez@gmail.com
authors.forename: Claudia Lorena
authors.initials: CL
authors.lastname: Garcia-Gonzalez
authors.forename: Hector
authors.initials: H
authors.lastname: Montoya-Fuentes
authors.forename: Miguel
authors.initials: M
authors.lastname: Padilla-Rosas
authors.forename: Jose
authors.initials: J
authors.lastname: Sanchez-Corona
mesh_terms: D000682:Amyloid / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016009:Chi-Square Distribution; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D015994:Incidence; D058228:Islet Amyloid Polypeptide; D008800:Mexico / Q000453:epidemiology; D009154:Mutation; D044382:Population Groups / Q000235:genetics
chemical_list: D000682:Amyloid; D058228:Islet Amyloid Polypeptide