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Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis
BACKGROUND: The disease that obstructs social movements of people is Huntington’s disease (HD). Hence, the expedition of its molecular aspects and bioinformatics tools relating to precise confirmation of the disease is warranted. Due to social stigma, the care and attention to safeguard these patien...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Qassim Uninversity
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852502/ https://www.ncbi.nlm.nih.gov/pubmed/31745395 |
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author | Srirama, Krupanidhi Vineela, J. Tejaswi, K. Thanmayi, M. N. |
author_facet | Srirama, Krupanidhi Vineela, J. Tejaswi, K. Thanmayi, M. N. |
author_sort | Srirama, Krupanidhi |
collection | PubMed |
description | BACKGROUND: The disease that obstructs social movements of people is Huntington’s disease (HD). Hence, the expedition of its molecular aspects and bioinformatics tools relating to precise confirmation of the disease is warranted. Due to social stigma, the care and attention to safeguard these patients had increased at community level. OBJECTIVE: The objective of the study was to explore bioinformatics tools to trace the defects in Huntington’s gene and design its small-guided RNA (sgRNA). METHODOLOGY: The HTT gene sequence was retrieved, CRISPR sites were identified, and gRNA sequence was determined using the University of California Santa Cruz (UCSC) Genome Browser. HTT protein molecular structure elucidation was retrieved through PDB and Swiss Model. Ramachandran plot displayed the cluster of poly-Q at the Phi (−60–−36) and Psi (−60–−65) regions. The pattern of residues in the plot displayed that the HTT protein is alpha-helical predominant. RESULTS: The CRISPR sites on HTT gene are viewed and sgRNA sequences are obtained through the UCSC Genome Browser. This sgRNA sequence along with Cas9 would be planned for genome editing in future experimental models. The Ramachandran plot for HTT protein derived through online Rampage revealed the recurrent appearance of polyglutamine (Q) at the Phi (−55–−65) and Psi (120–135) regions. CONCLUSION: Online bioinformatic tools such as UCSC Genome Browser, Swiss-Model, and Rampage help in exploring molecular basis of HD and disease-causing protein HTT, and the same invariably assists in creating awareness among health workers. |
format | Online Article Text |
id | pubmed-6852502 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Qassim Uninversity |
record_format | MEDLINE/PubMed |
spelling | pubmed-68525022019-11-19 Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis Srirama, Krupanidhi Vineela, J. Tejaswi, K. Thanmayi, M. N. Int J Health Sci (Qassim) Original Article BACKGROUND: The disease that obstructs social movements of people is Huntington’s disease (HD). Hence, the expedition of its molecular aspects and bioinformatics tools relating to precise confirmation of the disease is warranted. Due to social stigma, the care and attention to safeguard these patients had increased at community level. OBJECTIVE: The objective of the study was to explore bioinformatics tools to trace the defects in Huntington’s gene and design its small-guided RNA (sgRNA). METHODOLOGY: The HTT gene sequence was retrieved, CRISPR sites were identified, and gRNA sequence was determined using the University of California Santa Cruz (UCSC) Genome Browser. HTT protein molecular structure elucidation was retrieved through PDB and Swiss Model. Ramachandran plot displayed the cluster of poly-Q at the Phi (−60–−36) and Psi (−60–−65) regions. The pattern of residues in the plot displayed that the HTT protein is alpha-helical predominant. RESULTS: The CRISPR sites on HTT gene are viewed and sgRNA sequences are obtained through the UCSC Genome Browser. This sgRNA sequence along with Cas9 would be planned for genome editing in future experimental models. The Ramachandran plot for HTT protein derived through online Rampage revealed the recurrent appearance of polyglutamine (Q) at the Phi (−55–−65) and Psi (120–135) regions. CONCLUSION: Online bioinformatic tools such as UCSC Genome Browser, Swiss-Model, and Rampage help in exploring molecular basis of HD and disease-causing protein HTT, and the same invariably assists in creating awareness among health workers. Qassim Uninversity 2019 /pmc/articles/PMC6852502/ /pubmed/31745395 Text en Copyright: © International Journal of Health Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Srirama, Krupanidhi Vineela, J. Tejaswi, K. Thanmayi, M. N. Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis |
title | Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis |
title_full | Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis |
title_fullStr | Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis |
title_full_unstemmed | Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis |
title_short | Huntington’s chorea, a neurological disorder of all ages – Bioinformatics approach for its precise diagnosis |
title_sort | huntington’s chorea, a neurological disorder of all ages – bioinformatics approach for its precise diagnosis |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852502/ https://www.ncbi.nlm.nih.gov/pubmed/31745395 |
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