Combined SSCP and heteroduplex analysis of the human plasma membrane Ca(2+)-ATPase isoform 1 in patients with essential hypertension.
In recent theories concerning the pathogenesis of essential hypertension, altered calcium homeostasis plays an important role. Increased intracellular Ca(2+) levels have repeatedly been reported in different cell types of hypertensive subjects. In vascular smooth muscle cells the plasma membrane Ca(2+)-ATPase (PMCA) represents the most important Ca(2+)-ejection system. Modifications of this pump therefore have been assumed to increase contractile tone of small vessels. For this reason, the purpose of this study was to determine if genetic alterations in the hPMCA1 gene might be associated with arterial hypertension. For detection of polymorphisms all 22 PMCA1 exons from 44 patients with essential hypertension (based on rigorous clinical data in addition to a positive family history) and from 40 normotensives without a family history of hypertension were PCR amplified and subsequently subjected to combined single-strand conformation polymorphism (SSCP) and heteroduplex (HTX) analysis. Despite the high sensitivity of almost 100%, differences could not be identified between hypertensives and normotensives within the two groups. These data indicate that at least in this population PMCA1 polymorphisms are presumably not related to common forms of essential hypertension. Furthermore, the high degree of evolutionary conservation of the PMCA1 gene underlines the pivotal role of this ATPase for cell physiology.
Benkwitz
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C
Department of Anesthesiology, University of Wuerzburg, Josef-Schneider-Strasse 2, Wuerzburg, D-97080, Germany.
Oberdorf-Maass
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S
Neyses
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L
D000328:Adult; D000368:Aged; D001483:Base Sequence; D002118:Calcium / Q000378:metabolism; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D016022:Case-Control Studies; D027682:Cation Transport Proteins; D002462:Cell Membrane / Q000201:enzymology*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D006973:Hypertension / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D053499:Plasma Membrane Calcium-Transporting ATPases; D018807:Polymorphism, Single-Stranded Conformational
C506952:ATP2B1 protein, human; D027682:Cation Transport Proteins; D017931:DNA Primers; D007527:Isoenzymes; D009692:Nucleic Acid Heteroduplexes; D004247:DNA; D053499:Plasma Membrane Calcium-Transporting ATPases; D000252:Calcium-Transporting ATPases; D002118:Calcium