AI Article Synopsis
Article Abstract
The R563Q mutation of the beta-subunit of the epithelial sodium channel (ENaC) is associated with hypertension in black and mixed ancestry (MA) men and women in South Africa. The frequency of the R563Q mutation in black and MA women with pre-eclampsia (n= 230) and in controls (n= 198) was studied. The R563Q mutation was found in 7.8% of the women with pre-eclampsia and in 2.6% of controls (P= 0.014). This remained significant if the black women were analysed separately (P= 0.031). We have demonstrated that a genetic variant of the ENaC is associated with pre-eclampsia. This has implications for understanding the pathogenesis and treatment of pre-eclampsia.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1471-0528.2006.00899.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.
Cardiovasc J Afr
December 2011
Division of Hypertension, Groote Schuur Hospital and University of Cape Town, South Africa.
Background: A high prevalence of the R563Q mutation of the epithelial sodium channel β-subunit has been reported in South African hypertensives compared with unrelated normotensive controls. To delineate the effects of this mutation against a more uniform genetic background, this study investigated the association of the mutation with hypertension within affected kindreds.
Methods: Forty-five index patients and members of their kindreds were studied.
Association of pre-eclampsia with the R563Q mutation of the beta-subunit of the epithelial sodium channel.
BJOG
May 2006
Department of Obstetrics, University of Cape Town, Cape Town, South Africa.
The R563Q mutation of the beta-subunit of the epithelial sodium channel (ENaC) is associated with hypertension in black and mixed ancestry (MA) men and women in South Africa. The frequency of the R563Q mutation in black and MA women with pre-eclampsia (n= 230) and in controls (n= 198) was studied. The R563Q mutation was found in 7.
View Article and Find Full Text PDFA new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.
J Hypertens
May 2003
Departments of aMedicine and bLaboratory Medicine, Groote Schuur Hospital and University of Cape Town, South Africa.
Objective: To determine the relationship between R563Q, a mutation of the renal epithelial sodium channel, and hypertension.
Methods: Hypertensive patients with low renin and aldosterone, hypokalemia or resistant hypertension were selected for DNA analysis. Genomic DNA encoding the C-terminal domain of the epithelial sodium channel beta subunit from hypertensives and controls was amplified by polymerase chain reaction and screened for the R563Q mutation by digestion with Sfc1 restriction enzyme, or sequenced.
The interdigitated beta-helix domain of the P22 tailspike protein acts as a molecular clamp in trimer stabilization.
Protein Sci
April 2002
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
The P22 tailspike adhesin is an elongated thermostable trimer resistant to protease digestion and to denaturation in sodium dodecyl sulfate. Monomeric, dimeric, and protrimeric folding and assembly intermediates lack this stability and are thermolabile. In the native trimer, three right-handed parallel beta-helices (residues 143-540), pack side-by-side around the three-fold axis.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!