Amylin S20G mutation in Mexican population

García-González, Claudia; Montoya-Fuentes, Héctor; Padilla-Rosas, Miguel; Sánchez‐Corona, José

doi:10.1016/j.diabres.2006.07.030

Cited by 7 publications

(3 citation statements)

References 15 publications

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“…A study performed on a Chinese population identified the mutation in 2.6% of the individuals with earlyonset type 2 diabetes but in none of the control subjects. Screening for the mutation in other populations failed to identify the S20G variant [173]. There is an increase in the fibrillation propensity of S20G IAPP in vitro [174,175] and expression of the mutant in Cos-1 cells induced more apoptosis [175].…”

Section: Mutations In the Iapp Gene And Amyloidmentioning

confidence: 96%

Physiological and Pathophysiological Role of Islet Amyloid Polypeptide (IAPP, Amylin)

Westermark

2011

BetaSys

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IAPP has a number of effects which may be of physiological relevance. Islet amyloid, which earlier was regarded as a non-important degenerative product, most likely plays a central role in the loss of β-cells in type 2 diabetes and probably in transplanted human islets. Taken together the results from human and animal studies show that amyloid develops before β-cell deficiency, and the occurrence of oligomers and amyloid intracellular induces β-cell death. Prevention of islet amyloid most likely will save β-cells and extend hormone secretion. Islet Amyloid PolypeptideIslet amyloid polypeptide (IAPP) was originally isolated as the major peptide constituent of the amyloid from an insulinoma [1] and subsequently isolated from amyloid deposits present in the islet of Langerhans from patients with type 2 diabetes [2,3]. The 37 residue polypeptide proved to have an earlier unknown sequence, but showed an almost 50% identity to the known calcitonin gene-related peptide [4]. Other nomenclatures for IAPP are amylin [5], diabetes-associated peptide [6] and IAP (insulinoma amyloid peptide) [1]. IAPP is phylogenetically well preserved and found in all mammals where it has been looked for [7][8][9][10] and also in an avian [11] and fish [12].During embryogenesis in mice, IAPP was detected in the primordia at E12 and the immunoreactivity was restricted to the simultaneously occurring insulinexpressing cells [13]. In human, IAPP immune-reactive cells were demonstrated

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Section: Mutations In the Iapp Gene And Amyloidmentioning

confidence: 96%

Physiological and Pathophysiological Role of Islet Amyloid Polypeptide (IAPP, Amylin)

Westermark

2011

BetaSys

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“…A preliminary report on a population of Western of México reveals that polymorphism -180 C/T has been associated [26]. Also found positive for mutations in hIAPP gene (which encodes for amyloid polypeptide) in diabetics from Western of Mexico [27]. In these screening studies there are no variants associated in southeast and central population in HNF1β, INS, NeuroD1 genes [28,29].…”

Section: T2dm Molecular Heterogeneity In Mexican Populationmentioning

confidence: 99%

Molecular Heterogeneity of Type 2 Diabetes Mellitus in Mexican Population and its Impact of the Public Health on Policies in Primary Care

Alvarado¹,

García²,

Ferman³

et al. 2014

Med chem

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“…Genetic variation in the IAPP gene locus could affect/modify the association of IAAP homeostasis with T2D. Recent studies examining the association of specific IAPP genetic variants (MIM: 147940; 12p12.1), including a missense mutation S20G (dbSNP rs1800203), and a promoter variant -132G>A , with T2D have been conflicting with some showing an association (5, 6) while others no evidence for an association (7, 8). Most if not all of these previous studies were based on small sample populations and/or case-control design.…”

Section: Introductionmentioning

confidence: 99%

Islet amyloid polypeptide gene variation (IAPP) and the risk of incident type 2 diabetes mellitus: The women's genome health study

Zee¹,

Pulido‐Perez²,

Pérez-Fuentes³

et al. 2011

Clinica Chimica Acta

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Amylin S20G mutation in Mexican population

Cited by 7 publications

References 15 publications

Physiological and Pathophysiological Role of Islet Amyloid Polypeptide (IAPP, Amylin)

Physiological and Pathophysiological Role of Islet Amyloid Polypeptide (IAPP, Amylin)

Molecular Heterogeneity of Type 2 Diabetes Mellitus in Mexican Population and its Impact of the Public Health on Policies in Primary Care

Islet amyloid polypeptide gene variation (IAPP) and the risk of incident type 2 diabetes mellitus: The women's genome health study

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