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The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect
Includes abstract.
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
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Department of Medicine
2014
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| _version_ | 1867613873959337984 |
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| access_status_str | Open Access |
| author | Jones, Erika Sherad Wilshire |
| author2 | Rayner, B L |
| author_browse | Jones, Erika Sherad Wilshire Rayner, B L |
| author_facet | Rayner, B L Jones, Erika Sherad Wilshire |
| author_sort | Jones, Erika Sherad Wilshire |
| collection | Thesis |
| description | Includes abstract. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/3404 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:43:04.559Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/3404 The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect Jones, Erika Sherad Wilshire Rayner, B L Owen, E P Meissner, P N Medicine Includes abstract. Includes bibliographical references (p. 201-229). Hypertension is a major worldwide predictor of morbidity and mortality. The search for genes that contribute to blood pressure is ongoing. The epithelial sodium channel genes were implicated when the beta subunit (SCNN1B, gene ID 6338) was found to have a mutation that caused Liddle’s syndrome. The R563Q mutation in the beta subunit has been associated with hypertension and pre-eclampsia in the Xhosa and Coloured people in Cape Town. The thesis consists of a cross-sectional analysis of the prevalence of the R563Q mutation in multiple ethnic groups in South Africa and a longitudinal functional assessment in response to saline infusion. The objectives were to determine the prevalence of the R563Q mutation and association with hypertension, and if it persists within families; to speculate as to the origins of the mutation; to determine if there were any relevant clinical differences between comparable patients with essential hypertension; to determine if the mutation predicted a difference in response to acute sodium loading and if a physiological difference is observed in sodium channel activity when expressed in oocytes. A high frequency of hypertensives in Johannesburg and Cape Town were found to be heterozygous and the mutation associated with hypertension, including within families. In the Khoisan the R563Q mutation was found at a high frequency (19%) in a random sample, suggesting the mutation originated from this population. The saline challenge illustrated the in vivo effects of the mutation. The results suggest that the sodium channel is innately overactive in heterozygous subjects and that counter-regulatory mechanisms are in place to compensate for changes in renal sodium handling. However, preliminary in vitro testing in oocytes did not show a difference in sodium channel activity. 2014-07-29T09:03:59Z 2014-07-29T09:03:59Z 2009 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/3404 eng application/pdf Department of Medicine Faculty of Health Sciences University of Cape Town |
| spellingShingle | Medicine Jones, Erika Sherad Wilshire The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect |
| thesis_degree_str | Doctoral |
| title | The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect |
| title_full | The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect |
| title_fullStr | The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect |
| title_full_unstemmed | The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect |
| title_short | The R563Q mutation of the beta subunit of the epithelial sodium channel : prevalence and effect |
| title_sort | r563q mutation of the beta subunit of the epithelial sodium channel prevalence and effect |
| topic | Medicine |
| url | http://hdl.handle.net/11427/3404 |
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