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Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory
Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2022.
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University of Pretoria
2023
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| _version_ | 1867613596647686144 |
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| access_status_str | Open Access |
| author2 | Van Niekerk, Chantal |
| author_browse | Van Niekerk, Chantal |
| author_facet | Van Niekerk, Chantal |
| collection | Thesis |
| dc_rights_str_mv | © 2022 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2022. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/89363 |
| institution | University of Pretoria (South Africa) |
| last_indexed | 2026-06-10T12:38:39.945Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/89363 Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory Van Niekerk, Chantal nataliadasilver@gmail.com Van Deventer, Barbara Da Silva, Natalie Sudden cardiac death Sudden death Dilated cardiomyopathy Sudden cardiac death in the youth UCTD Laminopathy SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2022. The sudden death (SD) of a young and healthy individual can be traumatic. Approximately 85% of all SD cases are of cardiac origin, a condition known as sudden cardiac death (SCD). Familial dilated cardiomyopathy (FDCM) accounts for a major portion of SCD cases with the pathogenesis of FDCM being associated with changes in the main components of the nuclear lamina, within cardiac myocytes. These components - the lamins- are proteins encoded by the Lamin A/C (LMNA) gene. Causative variants of the LMNA gene are a major risk factor for SD and can be highly predictive for SCD. This study aimed to identify variations in the LMNA gene among SCD cases, within a cohort representative of the South African population. Two synonymous single nucleotide variants (SNVs) were identified in both case and control samples- SNV c.861T>C; p.Ala287 (rs535089) and SNV c.1338T>C; p.Asp446 (rs505058). Although previously classified as benign, these variants have been associated with dilated cardiomyopathy (DCM) and other laminopathy phenotypes. Due to their unique diagnostic value, inclusion of these variants in genetic screening panels can aid in confirming diagnosis of DCM and heart failure (HF), preventing SCD in young, otherwise healthy, individuals as well as aiding in further investigating other LMNA-associated diseases, which may arise as our population grows and diversifies. em2025 Chemical Pathology MSc (Chemical Pathology) Unrestricted SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure 2023-02-09T09:35:39Z 2023-02-09T09:35:39Z 2023-05 2022 Dissertation * A2023 https://repository.up.ac.za/handle/2263/89363 10.25403/UPresearchdata.22047218 © 2022 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | Sudden cardiac death Sudden death Dilated cardiomyopathy Sudden cardiac death in the youth UCTD Laminopathy SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory |
| title | Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory |
| title_full | Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory |
| title_fullStr | Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory |
| title_full_unstemmed | Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory |
| title_short | Genetic analysis of Lamin A/C gene variants in cases of sudden cardiac death admitted to a medico-legal laboratory |
| title_sort | genetic analysis of lamin a c gene variants in cases of sudden cardiac death admitted to a medico legal laboratory |
| topic | Sudden cardiac death Sudden death Dilated cardiomyopathy Sudden cardiac death in the youth UCTD Laminopathy SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure |
| url | https://repository.up.ac.za/handle/2263/89363 |