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Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer
Cytoskeletal rearrangement occurs in variety of cellular processes and involves a wide spectrum of proteins. Gelsolin super family proteins control actin organization by severing and capping filament ends and nucleating actin assembly. Gelsolin is the founding member of this family and plays importa...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809971/ https://www.ncbi.nlm.nih.gov/pubmed/23324580 http://dx.doi.org/10.3233/DMA-120952 |
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author | Baig, Ruqia Mehmood Mahjabeen, Ishrat Sabir, Maimoona Masood, Nosheen Ali, Kashif Malik, Faraz Arshad Kayani, Mahmood Akhtar |
author_facet | Baig, Ruqia Mehmood Mahjabeen, Ishrat Sabir, Maimoona Masood, Nosheen Ali, Kashif Malik, Faraz Arshad Kayani, Mahmood Akhtar |
author_sort | Baig, Ruqia Mehmood |
collection | PubMed |
description | Cytoskeletal rearrangement occurs in variety of cellular processes and involves a wide spectrum of proteins. Gelsolin super family proteins control actin organization by severing and capping filament ends and nucleating actin assembly. Gelsolin is the founding member of this family and plays important role in pathogenesis of human neoplasia. This study aimed to investigate the germline mutations and expressional profile of Gelsolin in human breast cancer tissues. For germ line screening PCR-SSCP technique was used while expression was analyzed through quantitative real time PCR. Different types of mutations were observed in Gelsolin coding regions on exons 4, 10, 11, 14 and 15. These mutations include 3 missense nonsynonymous substitution mutations, 2 deletions, 1 insertion and 1 synonymous substitution mutation. Gelsolin transcript level was found significantly lower in breast tumor tissues compared to control samples (p=0.03). Low level of Gelsolin was found in metastatic patients (p=0.002) and patients who died from breast cancer (P=0.03) compared to disease free patients at final follow up. This study shows that level of Gelsolin is down regulated in breast cancer tissues and is linked with metastasis development and death in patients. It is concluded that genetic changes in coding regions of Gelsolin can potentially contribute to genetic instability. These genetic variations and expressional correlation with patient survival may prove to be of significant importance. |
format | Online Article Text |
id | pubmed-3809971 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | IOS Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-38099712013-12-02 Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer Baig, Ruqia Mehmood Mahjabeen, Ishrat Sabir, Maimoona Masood, Nosheen Ali, Kashif Malik, Faraz Arshad Kayani, Mahmood Akhtar Dis Markers Other Cytoskeletal rearrangement occurs in variety of cellular processes and involves a wide spectrum of proteins. Gelsolin super family proteins control actin organization by severing and capping filament ends and nucleating actin assembly. Gelsolin is the founding member of this family and plays important role in pathogenesis of human neoplasia. This study aimed to investigate the germline mutations and expressional profile of Gelsolin in human breast cancer tissues. For germ line screening PCR-SSCP technique was used while expression was analyzed through quantitative real time PCR. Different types of mutations were observed in Gelsolin coding regions on exons 4, 10, 11, 14 and 15. These mutations include 3 missense nonsynonymous substitution mutations, 2 deletions, 1 insertion and 1 synonymous substitution mutation. Gelsolin transcript level was found significantly lower in breast tumor tissues compared to control samples (p=0.03). Low level of Gelsolin was found in metastatic patients (p=0.002) and patients who died from breast cancer (P=0.03) compared to disease free patients at final follow up. This study shows that level of Gelsolin is down regulated in breast cancer tissues and is linked with metastasis development and death in patients. It is concluded that genetic changes in coding regions of Gelsolin can potentially contribute to genetic instability. These genetic variations and expressional correlation with patient survival may prove to be of significant importance. IOS Press 2013 2013-01-24 /pmc/articles/PMC3809971/ /pubmed/23324580 http://dx.doi.org/10.3233/DMA-120952 Text en Copyright © 2013 Hindawi Publishing Corporation. |
spellingShingle | Other Baig, Ruqia Mehmood Mahjabeen, Ishrat Sabir, Maimoona Masood, Nosheen Ali, Kashif Malik, Faraz Arshad Kayani, Mahmood Akhtar Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer |
title | Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer |
title_full | Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer |
title_fullStr | Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer |
title_full_unstemmed | Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer |
title_short | Mutational Spectrum of Gelsolin and Its Down Regulation Is Associated with Breast Cancer |
title_sort | mutational spectrum of gelsolin and its down regulation is associated with breast cancer |
topic | Other |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809971/ https://www.ncbi.nlm.nih.gov/pubmed/23324580 http://dx.doi.org/10.3233/DMA-120952 |
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