Literature DB >> 16950544

Amylin S20G mutation in Mexican population.

Claudia Lorena Garcia-Gonzalez1, Hector Montoya-Fuentes, Miguel Padilla-Rosas, Jose Sanchez-Corona.   

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.

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Year:  2006        PMID: 16950544     DOI: 10.1016/j.diabres.2006.07.030

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN: 0168-8227            Impact factor:   5.602


  2 in total

1.  Free energy simulations of amylin I26P mutation in a lipid bilayer.

Authors:  Seifollah Jalili; Afsaneh Maleki; Mojdeh Akhavan; Bijan Najafi; Jeremy Schofield
Journal:  Eur Biophys J       Date:  2014-11-27       Impact factor: 1.733

2.  Islet amyloid polypeptide gene variation (IAPP) and the risk of incident type 2 diabetes mellitus: the Women's Genome Health Study.

Authors:  Robert Y L Zee; Patricia Pulido-Perez; Ricardo Perez-Fuentes; Paul M Ridker; Daniel I Chasman; Jose R Romero
Journal:  Clin Chim Acta       Date:  2011-01-08       Impact factor: 3.786

  2 in total

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