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A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome
OBJECTIVES: In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. MATERIALS AND METHODS: Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for hom...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404484/ https://www.ncbi.nlm.nih.gov/pubmed/33586345 http://dx.doi.org/10.1002/cre2.387 |
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author | Ghanei, Mahmoud Abbaszadegan, Mohammad R. Forghanifard, Mohammad M. Aarabi, Azadeh Arab, Hamidreza |
author_facet | Ghanei, Mahmoud Abbaszadegan, Mohammad R. Forghanifard, Mohammad M. Aarabi, Azadeh Arab, Hamidreza |
author_sort | Ghanei, Mahmoud |
collection | PubMed |
description | OBJECTIVES: In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. MATERIALS AND METHODS: Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for homology modeling. The homology modeling of the novel mutation was then performed using the online Swiss‐Prot server. The results were also analyzed for to verify its validity. RESULTS: The analysis of CTSC gene elucidated a novel insertion GAC. The novel mutation was proved by analyzing 50 healthy control volunteers. Modeling of the novel found mutation in CTSC gene revealed structural defects that may have caused the functional abnormalities. CONCLUSIONS: The structural analysis of the mutated protein model identifies changes in the stereo‐chemical and the energy level of the mutated protein. Since this protein play a role in the activation of granule serine proteases from cytotoxic T lymphocytes, natural killer cells, mast cells, such structural defects may lead to its malfunction causing dysfunctioning of immune defense mechanisms. |
format | Online Article Text |
id | pubmed-8404484 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84044842021-09-03 A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome Ghanei, Mahmoud Abbaszadegan, Mohammad R. Forghanifard, Mohammad M. Aarabi, Azadeh Arab, Hamidreza Clin Exp Dent Res Original Articles OBJECTIVES: In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. MATERIALS AND METHODS: Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for homology modeling. The homology modeling of the novel mutation was then performed using the online Swiss‐Prot server. The results were also analyzed for to verify its validity. RESULTS: The analysis of CTSC gene elucidated a novel insertion GAC. The novel mutation was proved by analyzing 50 healthy control volunteers. Modeling of the novel found mutation in CTSC gene revealed structural defects that may have caused the functional abnormalities. CONCLUSIONS: The structural analysis of the mutated protein model identifies changes in the stereo‐chemical and the energy level of the mutated protein. Since this protein play a role in the activation of granule serine proteases from cytotoxic T lymphocytes, natural killer cells, mast cells, such structural defects may lead to its malfunction causing dysfunctioning of immune defense mechanisms. John Wiley and Sons Inc. 2021-02-14 /pmc/articles/PMC8404484/ /pubmed/33586345 http://dx.doi.org/10.1002/cre2.387 Text en © 2021 The Authors. Clinical and Experimental Dental Research published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Ghanei, Mahmoud Abbaszadegan, Mohammad R. Forghanifard, Mohammad M. Aarabi, Azadeh Arab, Hamidreza A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
title | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
title_full | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
title_fullStr | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
title_full_unstemmed | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
title_short | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
title_sort | novel mutation in the cathepsin c (ctsc) gene in iranian family with papillon‐lefevre syndrome |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404484/ https://www.ncbi.nlm.nih.gov/pubmed/33586345 http://dx.doi.org/10.1002/cre2.387 |
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