In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Hypotrichosis is an uncommon type of alopecia (hair loss) characterized by coarse scalp hair caused by the reduced or fully terminated activity of the Lipase-H (LIPH) enzyme. LIPH gene mutations contribute to the development of irregular or non-functional proteins. Because several cellular processes...
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MDPI AG
2023-05-01
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| Online Access: | https://www.mdpi.com/1424-8247/16/6/803 |
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| author | Hamza Ali Khan Muhammad Umair Asif Muhammad Khurram Ijaz Metab Alharbi Yasir Ali Faisal Ahmad Ramsha Azhar Sajjad Ahmad Muhammad Irfan Maryana Javed Noorulain Naseer Abdul Aziz |
| author_facet | Hamza Ali Khan Muhammad Umair Asif Muhammad Khurram Ijaz Metab Alharbi Yasir Ali Faisal Ahmad Ramsha Azhar Sajjad Ahmad Muhammad Irfan Maryana Javed Noorulain Naseer Abdul Aziz |
| author_sort | Hamza Ali Khan |
| collection | DOAJ |
| description | Hypotrichosis is an uncommon type of alopecia (hair loss) characterized by coarse scalp hair caused by the reduced or fully terminated activity of the Lipase-H (LIPH) enzyme. LIPH gene mutations contribute to the development of irregular or non-functional proteins. Because several cellular processes, including cell maturation and proliferation, are inhibited when this enzyme is inactive, the hair follicles become structurally unreliable, undeveloped, and immature. This results in brittle hair, as well as altered hair shaft development and structure. Because of these nsSNPs, the protein’s structure and/or function may be altered. Given the difficulty in discovering functional SNPs in genes associated with disease, it is possible to assess potential functional SNPs before conducting broader population investigations. As a result, in our in silico analysis, we separated potentially hazardous nsSNPs of the LIPH gene from benign representatives using a variety of sequencing and architecture-based bioinformatics approaches. Using seven prediction algorithms, 9 out of a total of 215 nsSNPs were shown to be the most likely to cause harm. In order to distinguish between potentially harmful and benign nsSNPs of the LIPH gene, in our in silico investigation, we employed a range of sequence- and architecture-based bioinformatics techniques. Three nsSNPs (W108R, C246S, and H248N) were chosen as potentially harmful. The present findings will likely be helpful in future large population-based studies, as well as in drug discovery, particularly in the creation of personalized medicine, since this study provides an initial thorough investigation of the functional nsSNPs of LIPH. |
| first_indexed | 2024-03-11T02:03:45Z |
| format | Article |
| id | doaj.art-edad41d0a1144fde84f5b37fd5344b3a |
| institution | Directory Open Access Journal |
| issn | 1424-8247 |
| language | English |
| last_indexed | 2024-03-11T02:03:45Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pharmaceuticals |
| spelling | doaj.art-edad41d0a1144fde84f5b37fd5344b3a2023-11-18T12:01:44ZengMDPI AGPharmaceuticals1424-82472023-05-0116680310.3390/ph16060803In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with HypotrichosisHamza Ali Khan0Muhammad Umair Asif1Muhammad Khurram Ijaz2Metab Alharbi3Yasir Ali4Faisal Ahmad5Ramsha Azhar6Sajjad Ahmad7Muhammad Irfan8Maryana Javed9Noorulain Naseer10Abdul Aziz11Department of Computer Science and Bioinformatics, Khushal Khan Khattak University, Karak 27200, PakistanBasic Health Unit, 196 RB, Faisalabad 38000, PakistanRural Health Center, Faislaabad 38000, PakistanDepartment of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh 11451, Saudi ArabiaNational Center for Bioinformatics, Quaid-i-Azam University, Islamabad 45320, PakistanNational Center for Bioinformatics, Quaid-i-Azam University, Islamabad 45320, PakistanNational Center for Bioinformatics, Quaid-i-Azam University, Islamabad 45320, PakistanDepartment of Health and Biological Sciences, Abasyn University, Peshawar 25000, PakistanDepartment of Oral Biology, College of Dentistry, University of Florida, Gainesville, FL 32611, USANational Center for Bioinformatics, Quaid-i-Azam University, Islamabad 45320, PakistanNational Center for Bioinformatics, Quaid-i-Azam University, Islamabad 45320, PakistanDepartment of Computer Science and Bioinformatics, Khushal Khan Khattak University, Karak 27200, PakistanHypotrichosis is an uncommon type of alopecia (hair loss) characterized by coarse scalp hair caused by the reduced or fully terminated activity of the Lipase-H (LIPH) enzyme. LIPH gene mutations contribute to the development of irregular or non-functional proteins. Because several cellular processes, including cell maturation and proliferation, are inhibited when this enzyme is inactive, the hair follicles become structurally unreliable, undeveloped, and immature. This results in brittle hair, as well as altered hair shaft development and structure. Because of these nsSNPs, the protein’s structure and/or function may be altered. Given the difficulty in discovering functional SNPs in genes associated with disease, it is possible to assess potential functional SNPs before conducting broader population investigations. As a result, in our in silico analysis, we separated potentially hazardous nsSNPs of the LIPH gene from benign representatives using a variety of sequencing and architecture-based bioinformatics approaches. Using seven prediction algorithms, 9 out of a total of 215 nsSNPs were shown to be the most likely to cause harm. In order to distinguish between potentially harmful and benign nsSNPs of the LIPH gene, in our in silico investigation, we employed a range of sequence- and architecture-based bioinformatics techniques. Three nsSNPs (W108R, C246S, and H248N) were chosen as potentially harmful. The present findings will likely be helpful in future large population-based studies, as well as in drug discovery, particularly in the creation of personalized medicine, since this study provides an initial thorough investigation of the functional nsSNPs of LIPH.https://www.mdpi.com/1424-8247/16/6/803hair lossLipase-Hhypotrichosismissense mutationsmolecular dynamics simulationalopecia |
| spellingShingle | Hamza Ali Khan Muhammad Umair Asif Muhammad Khurram Ijaz Metab Alharbi Yasir Ali Faisal Ahmad Ramsha Azhar Sajjad Ahmad Muhammad Irfan Maryana Javed Noorulain Naseer Abdul Aziz In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals hair loss Lipase-H hypotrichosis missense mutations molecular dynamics simulation alopecia |
| title | In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis |
| title_full | In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis |
| title_fullStr | In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis |
| title_full_unstemmed | In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis |
| title_short | In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis |
| title_sort | in silico characterization and analysis of clinically significant variants of lipase h liph gene protein associated with hypotrichosis |
| topic | hair loss Lipase-H hypotrichosis missense mutations molecular dynamics simulation alopecia |
| url | https://www.mdpi.com/1424-8247/16/6/803 |
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