Abstract
Background: Impaired function of calcium ion transporter sarco(endo)plasmic reticulum Ca2+-ATPase2 (SERCA2), encoded by ATP2A2 gene, was observed in hypertension. The aim of this study was to screen for mutations in the ATP2A2 gene, in hypertensive patients compared to healthy controls. Methods: The frequency of a novel mutation in exon 15 of ATP2A2, coding SERCA2, was studied in 107 hypertensive ...
Abstract
Background: Impaired function of calcium ion transporter sarco(endo)plasmic reticulum Ca2+-ATPase2 (SERCA2), encoded by ATP2A2 gene, was observed in hypertension. The aim of this study was to screen for mutations in the ATP2A2 gene, in hypertensive patients compared to healthy controls. Methods: The frequency of a novel mutation in exon 15 of ATP2A2, coding SERCA2, was studied in 107 hypertensive patients and a control group of 50 healthy volunteers. 24-h ambulatory blood-pressure monitoring (ABPM) was carried out. ATP2A2 genotyping was performed by denaturing HPLC and sequencing. Results: In exon 15 of the ATP2A2 gene, a novel c.2171G > A polymorphism was identified that does not change the amino acid sequence. The frequency of the A allele was significantly higher in normotensive controls than in hypertensive patients (p=0.017). GA genotype carriers demonstrated a tendency towards lower blood pressure values in the doctor's office (p=0.367 systolic, p=0.439 diastolic blood pressure) and measured by ABPM. Conclusions: Our results suggest a protective role of the A724A (c.2171G > A) polymorphism of ATP2A2 in subjects without hypertension.
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