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Vol 3, No 4 (2002): Practical Diabetology
Original articles (submitted)
Published online: 2002-09-25
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A role of Pro115Gln mutation in the PPAR < font face=symbol > g < /font > gene in the pathogenesis of obesity in a population of Małopolska region

Maciej T. Małecki, Jakub Frey, Tomasz Klupa, Małgorzata Waluś, Małgorzata Owczarek, Jacek Sieradzki
Diabetologia Praktyczna 2002;3(4):227-232.

open access

Vol 3, No 4 (2002): Practical Diabetology
Original articles (submitted)
Published online: 2002-09-25

Abstract

INTRODUCTION. PPARg is a nuclear receptor that is activated by factors, fatty acids for example, that influence the activation of peroxisomes. Its function is, among others, the regulation of adipocyte differentiation and trigliceryde storage. Mutations and polymorphisms of this gene influence the pathogenesis of obesity and type 2 diabetes mellitus in humans. Recently, a substitution of proline by glutamine at residue 115 of the PPARg gene has been described in a German population. This Pro115Gln missence mutation caused increased transcriptional activity of the protein and occurrence of monogenic form of obesity.
AIM OF STUDY. In the current study we aimed to identify the role of Pro115Gln mutation in the pathogenesis of severe obesity in Małopolska region.

MATERIAL AND METHODS. We included into this study 89 obese individuals with BMI (body mass index) equal or above 35 (60 women and 29 men). There were 64 type 2 diabetes patients among them (43 women and 21 men). DNA of these 89 individuals was used to amplify, through polymerase chain reaction (PCR), a 129 base pair DNA fragment that could potentially contain the examined mutation. Screening for the Pro114Gln mutation was performed by restriction fragment length polymorphism (RFLP) method using Hinc II restriction enzyme.

RESULTS. None of the examined samples showed the presence of Hinc II restriction site. This constitutes the evidence that our study group did not contain a carrier of the Pro115Gln mutation. To confirm the activity of the Hinc II restriction enzyme used in the study we amplified and digested the fragment of melanocortine 4 receptor gene (MC4R) that contained Val103Ile polymorphism creating Hinc II restriction site.

CONCLUSION. Our study proves that Pro115Gln mutation of the PPARg gene is not a frequent cause of severe obesity in a population of Małopolska region.

Abstract

INTRODUCTION. PPARg is a nuclear receptor that is activated by factors, fatty acids for example, that influence the activation of peroxisomes. Its function is, among others, the regulation of adipocyte differentiation and trigliceryde storage. Mutations and polymorphisms of this gene influence the pathogenesis of obesity and type 2 diabetes mellitus in humans. Recently, a substitution of proline by glutamine at residue 115 of the PPARg gene has been described in a German population. This Pro115Gln missence mutation caused increased transcriptional activity of the protein and occurrence of monogenic form of obesity.
AIM OF STUDY. In the current study we aimed to identify the role of Pro115Gln mutation in the pathogenesis of severe obesity in Małopolska region.

MATERIAL AND METHODS. We included into this study 89 obese individuals with BMI (body mass index) equal or above 35 (60 women and 29 men). There were 64 type 2 diabetes patients among them (43 women and 21 men). DNA of these 89 individuals was used to amplify, through polymerase chain reaction (PCR), a 129 base pair DNA fragment that could potentially contain the examined mutation. Screening for the Pro114Gln mutation was performed by restriction fragment length polymorphism (RFLP) method using Hinc II restriction enzyme.

RESULTS. None of the examined samples showed the presence of Hinc II restriction site. This constitutes the evidence that our study group did not contain a carrier of the Pro115Gln mutation. To confirm the activity of the Hinc II restriction enzyme used in the study we amplified and digested the fragment of melanocortine 4 receptor gene (MC4R) that contained Val103Ile polymorphism creating Hinc II restriction site.

CONCLUSION. Our study proves that Pro115Gln mutation of the PPARg gene is not a frequent cause of severe obesity in a population of Małopolska region.
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Keywords

PPARg; gen; otyłość

About this article
Title

A role of Pro115Gln mutation in the PPARg gene in the pathogenesis of obesity in a population of Małopolska region

Journal

Clinical Diabetology

Issue

Vol 3, No 4 (2002): Practical Diabetology

Pages

227-232

Published online

2002-09-25

Bibliographic record

Diabetologia Praktyczna 2002;3(4):227-232.

Keywords

PPARg
gen
otyłość

Authors

Maciej T. Małecki
Jakub Frey
Tomasz Klupa
Małgorzata Waluś
Małgorzata Owczarek
Jacek Sieradzki

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