Journal article

Epigenetic modification of the norepinephrine transporter gene in postural tachycardia syndrome

R Bayles, H Kn, E Lambert, EK Baker, A Agrotis, L Guo, JBM Jowett, M Esler, G Lambert, A El-Osta

Arteriosclerosis Thrombosis and Vascular Biology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2012

Abstract

Objective-The postural tachycardia syndrome (POTS) has multiple symptoms, chief among which are tachycardia, weakness, and recurrent blackouts while standing. Previous research has implicated dysfunction of the norepinephrine transporter. A coding mutation in the norepinephrine transporter gene (SLC6A2) sequence has been reported in 1 family kindred only. The goal of the present study was to further characterize the role and regulation of the SLC6A2 gene in POTS. Methods and Results-Sympathetic nervous system responses to head-up tilt were examined by combining norepinephrine plasma kinetics measurements and muscle sympathetic nerve activity recordings in patients with POTS compared with tha..

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