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mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India

Mitochondrion plays an integral role in glucose metabolism and insulin secretion. Mitochondrial electron-transport chain (ETC) is involved in adenosine triphosphate (ATP) generation and ATP mediated insulin secretion in pancreatic β-cells. β-cell dysfunction is a critical component in the pathogenes...

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Autores principales: Sharma, Varun, Sharma, Indu, Singh, Vishav Pratap, Verma, Sonali, Pandita, Anil, Singh, Vinod, Rai, Ekta, Sharma, Swarkar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287871/
https://www.ncbi.nlm.nih.gov/pubmed/25606409
http://dx.doi.org/10.1016/j.mgene.2014.02.003
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author Sharma, Varun
Sharma, Indu
Singh, Vishav Pratap
Verma, Sonali
Pandita, Anil
Singh, Vinod
Rai, Ekta
Sharma, Swarkar
author_facet Sharma, Varun
Sharma, Indu
Singh, Vishav Pratap
Verma, Sonali
Pandita, Anil
Singh, Vinod
Rai, Ekta
Sharma, Swarkar
author_sort Sharma, Varun
collection PubMed
description Mitochondrion plays an integral role in glucose metabolism and insulin secretion. Mitochondrial electron-transport chain (ETC) is involved in adenosine triphosphate (ATP) generation and ATP mediated insulin secretion in pancreatic β-cells. β-cell dysfunction is a critical component in the pathogenesis of type 2 diabetes (T2D). The mtDNA G10398A variation (amino acid change: Alanine → Threonine) within the NADH dehydrogenase (ND3) subunit of complex I of mtDNA ETC, has emerged as a variation of clinical significance in various disorders including T2D. This variation is supposed to result in altered complex I function, leading to an increased rate of electron leakage and reactive oxygen species (ROS) production, which might cause β-cell damage and impaired insulin secretion. The aim of the study was to explore the association of mtDNA G10398A variation with T2D in a total of 439 samples (196 T2D cases and 243 healthy controls) belonging to the Jammu region of Jammu and Kashmir (J&K). The candidate gene association analyses showed significant association of mtDNA G10398A variant with T2D and the estimated odds ratio (OR) was 2.83 (1.64–4.90 at 95% CI) in the studied population group. The extent of genetic heterogeneity in T2D and diversity of the Indian population groups, make such replication studies pertinent to understand the etiology of T2D in these population groups.
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spelling pubmed-42878712015-01-20 mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India Sharma, Varun Sharma, Indu Singh, Vishav Pratap Verma, Sonali Pandita, Anil Singh, Vinod Rai, Ekta Sharma, Swarkar Meta Gene Article Mitochondrion plays an integral role in glucose metabolism and insulin secretion. Mitochondrial electron-transport chain (ETC) is involved in adenosine triphosphate (ATP) generation and ATP mediated insulin secretion in pancreatic β-cells. β-cell dysfunction is a critical component in the pathogenesis of type 2 diabetes (T2D). The mtDNA G10398A variation (amino acid change: Alanine → Threonine) within the NADH dehydrogenase (ND3) subunit of complex I of mtDNA ETC, has emerged as a variation of clinical significance in various disorders including T2D. This variation is supposed to result in altered complex I function, leading to an increased rate of electron leakage and reactive oxygen species (ROS) production, which might cause β-cell damage and impaired insulin secretion. The aim of the study was to explore the association of mtDNA G10398A variation with T2D in a total of 439 samples (196 T2D cases and 243 healthy controls) belonging to the Jammu region of Jammu and Kashmir (J&K). The candidate gene association analyses showed significant association of mtDNA G10398A variant with T2D and the estimated odds ratio (OR) was 2.83 (1.64–4.90 at 95% CI) in the studied population group. The extent of genetic heterogeneity in T2D and diversity of the Indian population groups, make such replication studies pertinent to understand the etiology of T2D in these population groups. Elsevier 2014-04-13 /pmc/articles/PMC4287871/ /pubmed/25606409 http://dx.doi.org/10.1016/j.mgene.2014.02.003 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-sa/3.0/ This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/).
spellingShingle Article
Sharma, Varun
Sharma, Indu
Singh, Vishav Pratap
Verma, Sonali
Pandita, Anil
Singh, Vinod
Rai, Ekta
Sharma, Swarkar
mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India
title mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India
title_full mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India
title_fullStr mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India
title_full_unstemmed mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India
title_short mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India
title_sort mtdna g10398a variation provides risk to type 2 diabetes in population group from the jammu region of india
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287871/
https://www.ncbi.nlm.nih.gov/pubmed/25606409
http://dx.doi.org/10.1016/j.mgene.2014.02.003
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