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Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A

The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Mutations in CMT related disorder are seen to increase the stability of the protein resulting...

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Autores principales: Kumar, Chundi Vinay, Swetha, Rayapadi G., Anbarasu, Anand, Ramaiah, Sudha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220619/
https://www.ncbi.nlm.nih.gov/pubmed/25400662
http://dx.doi.org/10.1155/2014/502618
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author Kumar, Chundi Vinay
Swetha, Rayapadi G.
Anbarasu, Anand
Ramaiah, Sudha
author_facet Kumar, Chundi Vinay
Swetha, Rayapadi G.
Anbarasu, Anand
Ramaiah, Sudha
author_sort Kumar, Chundi Vinay
collection PubMed
description The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Mutations in CMT related disorder are seen to increase the stability of the protein resulting in the diseased state. We performed SNP analysis for all the nsSNPs of PMP22 protein and carried out molecular dynamics simulation for T118M mutation to compare the stability difference between the wild type protein structure and the mutant protein structure. The mutation T118M resulted in the overall increase in the stability of the mutant protein. The superimposed structure shows marked structural variation between the wild type and the mutant protein structures.
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spelling pubmed-42206192014-11-16 Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A Kumar, Chundi Vinay Swetha, Rayapadi G. Anbarasu, Anand Ramaiah, Sudha Adv Bioinformatics Research Article The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Mutations in CMT related disorder are seen to increase the stability of the protein resulting in the diseased state. We performed SNP analysis for all the nsSNPs of PMP22 protein and carried out molecular dynamics simulation for T118M mutation to compare the stability difference between the wild type protein structure and the mutant protein structure. The mutation T118M resulted in the overall increase in the stability of the mutant protein. The superimposed structure shows marked structural variation between the wild type and the mutant protein structures. Hindawi Publishing Corporation 2014 2014-10-20 /pmc/articles/PMC4220619/ /pubmed/25400662 http://dx.doi.org/10.1155/2014/502618 Text en Copyright © 2014 Chundi Vinay Kumar et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Kumar, Chundi Vinay
Swetha, Rayapadi G.
Anbarasu, Anand
Ramaiah, Sudha
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
title Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
title_full Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
title_fullStr Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
title_full_unstemmed Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
title_short Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
title_sort computational analysis reveals the association of threonine 118 methionine mutation in pmp22 resulting in cmt-1a
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220619/
https://www.ncbi.nlm.nih.gov/pubmed/25400662
http://dx.doi.org/10.1155/2014/502618
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