Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach
Abstract Objectives: To find the effect of pathogenic Mitofusin 2mutations, responsible for Charcot-Marie-Tooth hereditary neuropathy type 2A, on protein structure. Methods: The study was conducted at department of biosciences COMSATS University Islamabad, Sahiwal campus from September 2016to...
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| Format: | Article |
| Language: | English |
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Pakistan Medical Association
2020-10-01
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| Series: | Journal of the Pakistan Medical Association |
| Online Access: | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1685 |
| _version_ | 1797820587645599744 |
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| author | Muhammad Asif Rasheed Sumaira Kanwal Farrukh Jamil Muhammad Ibrahim Shazia Perveen |
| author_facet | Muhammad Asif Rasheed Sumaira Kanwal Farrukh Jamil Muhammad Ibrahim Shazia Perveen |
| author_sort | Muhammad Asif Rasheed |
| collection | DOAJ |
| description |
Abstract
Objectives: To find the effect of pathogenic Mitofusin 2mutations, responsible for Charcot-Marie-Tooth hereditary neuropathy type 2A, on protein structure.
Methods: The study was conducted at department of biosciences COMSATS University Islamabad, Sahiwal campus from September 2016to July 2017, and comprised patients with Charcot-Marie-Tooth hereditary neuropathy type 2A who were divided into early-onset severe group A and late-onset mild group B. Bioinformatics and molecular analysis was done to find the changes in the protein structure caused by the mutation. Three mutations were selected in two domains of the gene. These were: p. Arg94Trp, p. His165Arg and p. Thr362Met.
Results: Of the 10 patients, 5(50%) were in each of the two groups. Change in the structure was predicted in the mutated protein at position p. Arg94Trp, and, due to the mutation, an extra alpha helix was formed in the mutated protein.
Conclusion: Change in the structure of protein can be in a critical position that is involved in the mitochondrial fusion process. However, further studies are required to validate and explain the findings.
Key Words: Inherited peripheral neuropathies, CMT2A, MFN2, Functional disability scale, Structural analysis, GTPase domain.
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| first_indexed | 2024-03-13T09:40:31Z |
| format | Article |
| id | doaj.art-7318a61964584df8a1f849ae1850436c |
| institution | Directory Open Access Journal |
| issn | 0030-9982 |
| language | English |
| last_indexed | 2024-03-13T09:40:31Z |
| publishDate | 2020-10-01 |
| publisher | Pakistan Medical Association |
| record_format | Article |
| series | Journal of the Pakistan Medical Association |
| spelling | doaj.art-7318a61964584df8a1f849ae1850436c2023-05-25T04:25:25ZengPakistan Medical AssociationJournal of the Pakistan Medical Association0030-99822020-10-0110.47391/JPMA.063Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approachMuhammad Asif Rasheed 0Sumaira Kanwal 1Farrukh Jamil 2Muhammad Ibrahim3Shazia Perveen4Department of Biosciences, COMSATS University Islamabad, Sahiwal Campus, PakistanDepartment of Biosciences, COMSATS University Islamabad, Sahiwal Campus, PakistanDepartment of Biosciences, COMSATS University Islamabad, Sahiwal Campus, PakistanDepartment of Biosciences, COMSATS University Islamabad, Sahiwal Campus, PakistanDepartment of Zoology, The Women University Multan Matital Campus, Multan, Pakistan Abstract Objectives: To find the effect of pathogenic Mitofusin 2mutations, responsible for Charcot-Marie-Tooth hereditary neuropathy type 2A, on protein structure. Methods: The study was conducted at department of biosciences COMSATS University Islamabad, Sahiwal campus from September 2016to July 2017, and comprised patients with Charcot-Marie-Tooth hereditary neuropathy type 2A who were divided into early-onset severe group A and late-onset mild group B. Bioinformatics and molecular analysis was done to find the changes in the protein structure caused by the mutation. Three mutations were selected in two domains of the gene. These were: p. Arg94Trp, p. His165Arg and p. Thr362Met. Results: Of the 10 patients, 5(50%) were in each of the two groups. Change in the structure was predicted in the mutated protein at position p. Arg94Trp, and, due to the mutation, an extra alpha helix was formed in the mutated protein. Conclusion: Change in the structure of protein can be in a critical position that is involved in the mitochondrial fusion process. However, further studies are required to validate and explain the findings. Key Words: Inherited peripheral neuropathies, CMT2A, MFN2, Functional disability scale, Structural analysis, GTPase domain. Continuous... https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1685 |
| spellingShingle | Muhammad Asif Rasheed Sumaira Kanwal Farrukh Jamil Muhammad Ibrahim Shazia Perveen Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach Journal of the Pakistan Medical Association |
| title | Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach |
| title_full | Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach |
| title_fullStr | Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach |
| title_full_unstemmed | Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach |
| title_short | Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach |
| title_sort | analysis of the conformational changes caused by the mutations in mitofusin2 gene by insilico approach |
| url | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1685 |
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