Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation
Background: A fatal health issue termed Myocardial Infarction (MI) is characterized by an acute loss of oxygen and blood supply to the heart muscles, ultimately leading to necrosis. This can turn life threatening if left untreated and undiagnosed at early stages. Elevated plasma LDL cholesterol invo...
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Krishna Vishwa Vidyapeeth (Deemed to be University), Karad
2024-07-01
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| Series: | Journal of Krishna Institute of Medical Sciences University |
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| Online Access: | https://www.jkimsu.com/jkimsu-vol13no3/JKIMSU,%20Vol.%2013,%20No.%203,%20July-September%202024%20Page%2098-109.pdf |
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| author | Desaraju Suresh Bhargav Nadeem Siddiqui Bhadra Murthy V Vijaya Tartte Vanaja V |
| author_facet | Desaraju Suresh Bhargav Nadeem Siddiqui Bhadra Murthy V Vijaya Tartte Vanaja V |
| author_sort | Desaraju Suresh Bhargav |
| collection | DOAJ |
| description | Background: A fatal health issue termed Myocardial Infarction (MI) is characterized by an acute loss of oxygen and blood supply to the heart muscles, ultimately leading to necrosis. This can turn life threatening if left untreated and undiagnosed at early stages. Elevated plasma LDL cholesterol involved in plaque formation and thinning of arterial walls is believed to the main culprit. Till date there are no preventive diagnosis/screening molecular mechanism to identify the responsible markers for this cholesterol metabolism and associated risk factors. Aim and Objectives: To identify the predominantly expressed genes associated with MI. The purpose of this work was to aid in the identification of biomarkers for the genetic diagnosis of MI leading to better understanding of the relation between genes involved in coronary heart diseases and their molecular mechanism. Material and Methods: This was a case control study in which patients attending the Cardiology Department of Sri Venkateswara Institute of Medical Sciences (SVIMS) recruited and initially evaluated with all biochemical parameters. After taking written informed consent, DNA samples were collected and subjected to NGS sequencing studies; a 17-gene customized MI panel was designed for targeted sequencing. The obtained data was analysed and identified variations within the selected genes were given priority for further investigation. Results: Variants in the APOB, MTHFR, WDR12, CELSR2, and MIA3 genes were identified as more predominant in the sequenced individuals and two novel variants were observed from CELSR2 which were not reported previously. Conclusion: To ascertain pathogenicity and role in the emergence of MI-related disorders these genes were mapped to online databases. Interestingly we found majority of genes from designed MI panel exhibit a variable effect upon the probability to acquire CAD as well as the severity towards variety of coronary heart diseases. |
| format | Article |
| id | doaj-art-dc49e1ac90594967ad28009f6d6d04ff |
| institution | Kabale University |
| issn | 2231-4261 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Krishna Vishwa Vidyapeeth (Deemed to be University), Karad |
| record_format | Article |
| series | Journal of Krishna Institute of Medical Sciences University |
| spelling | doaj-art-dc49e1ac90594967ad28009f6d6d04ff2025-02-02T10:35:45ZengKrishna Vishwa Vidyapeeth (Deemed to be University), KaradJournal of Krishna Institute of Medical Sciences University2231-42612024-07-0113398109Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigationDesaraju Suresh Bhargav0Nadeem Siddiqui1Bhadra Murthy V2Vijaya Tartte 3Vanaja V4Department of Biotechnology, KLEF Deemed to be University, Guntur-522502 (Andhra Pradesh) IndiaDepartment of Biotechnology, KLEF Deemed to be University, Guntur-522502 (Andhra Pradesh) Indiaool Climate Oenology and Viticulture Institute, Brock University, St. Catharines, CanadaDepartment of Biotechnology, Sri Venkateswara University, Tirupati-517502 (Andhra Pradesh) IndiaDepartment of Cardiology, SVIMS University, Tirupati-517502 (Andhra Pradesh) IndiaBackground: A fatal health issue termed Myocardial Infarction (MI) is characterized by an acute loss of oxygen and blood supply to the heart muscles, ultimately leading to necrosis. This can turn life threatening if left untreated and undiagnosed at early stages. Elevated plasma LDL cholesterol involved in plaque formation and thinning of arterial walls is believed to the main culprit. Till date there are no preventive diagnosis/screening molecular mechanism to identify the responsible markers for this cholesterol metabolism and associated risk factors. Aim and Objectives: To identify the predominantly expressed genes associated with MI. The purpose of this work was to aid in the identification of biomarkers for the genetic diagnosis of MI leading to better understanding of the relation between genes involved in coronary heart diseases and their molecular mechanism. Material and Methods: This was a case control study in which patients attending the Cardiology Department of Sri Venkateswara Institute of Medical Sciences (SVIMS) recruited and initially evaluated with all biochemical parameters. After taking written informed consent, DNA samples were collected and subjected to NGS sequencing studies; a 17-gene customized MI panel was designed for targeted sequencing. The obtained data was analysed and identified variations within the selected genes were given priority for further investigation. Results: Variants in the APOB, MTHFR, WDR12, CELSR2, and MIA3 genes were identified as more predominant in the sequenced individuals and two novel variants were observed from CELSR2 which were not reported previously. Conclusion: To ascertain pathogenicity and role in the emergence of MI-related disorders these genes were mapped to online databases. Interestingly we found majority of genes from designed MI panel exhibit a variable effect upon the probability to acquire CAD as well as the severity towards variety of coronary heart diseases.https://www.jkimsu.com/jkimsu-vol13no3/JKIMSU,%20Vol.%2013,%20No.%203,%20July-September%202024%20Page%2098-109.pdfmyocardial infractiontargeted sequencingbiomarker developmentcardiovascular disordersvariant of uncertain significance |
| spellingShingle | Desaraju Suresh Bhargav Nadeem Siddiqui Bhadra Murthy V Vijaya Tartte Vanaja V Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation Journal of Krishna Institute of Medical Sciences University myocardial infraction targeted sequencing biomarker development cardiovascular disorders variant of uncertain significance |
| title | Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation |
| title_full | Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation |
| title_fullStr | Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation |
| title_full_unstemmed | Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation |
| title_short | Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation |
| title_sort | deployment of next generation sequencing approach for variant detection in myocardial infarction a concise investigation |
| topic | myocardial infraction targeted sequencing biomarker development cardiovascular disorders variant of uncertain significance |
| url | https://www.jkimsu.com/jkimsu-vol13no3/JKIMSU,%20Vol.%2013,%20No.%203,%20July-September%202024%20Page%2098-109.pdf |
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