Epigenomic changes associated with impaired norepinephrine transporter function in postural tachycardia syndrome

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4 Citations (Scopus)


The postural tachycardia syndrome (POTS) is characterised clinically by symptoms of light-headedness, palpitations, fatigue and exercise intolerance occurring with standing and relieved by lying down. Symptoms occur in association with an inappropriate rise in heart rate in the absence of a fall in blood pressure with the assumption of standing. The pathophysiology of POTS is complicated and poorly understood. Plasma norepinephrine (NE) is often elevated in patients with POTS, resulting in consideration of dysfunction of the norepinephrine transporter (NET) encoded by SLC6A2 gene. Whilst some studies have implicated a defect in the SLC6A2 gene, the cause of reduced SLC6A2 expression and function remains unclear. The search to explain the molecular mechanism of NET dysfunction has focused on genetic variation in the SLC6A2 gene and remains inconclusive. More recent studies show epigenetic mechanisms implicated in the regulation of SLC6A2 expression. In this article, we discuss the epigenetic mechanisms involved in SLC6A2 repression and highlight the potential therapeutic application of targeting these mechanisms in POTS.

Original languageEnglish
Pages (from-to)342-355
Number of pages14
JournalNeuroscience and Biobehavioral Reviews
Publication statusPublished - 1 Mar 2017


  • Chromatin
  • Epigenetics
  • Gene regulation
  • Histone modifications
  • MeCP2
  • Norepinephrine transporter
  • Postural tachycardia syndrome


  • 1 Contribution to conference

Stress, Behavior and the Heart

Sam El-Osta (Invited speaker)

5 Oct 2015

Activity: Participating in or organising an event typesContribution to conference

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