A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters

J Neurosci. 2003 Jun 1;23(11):4470-8. doi: 10.1523/JNEUROSCI.23-11-04470.2003.

Abstract

The norepinephrine transporter (NET) mediates reuptake of norepinephrine released from neurons, and, as such, it is an important regulator of noradrenergic neurotransmission. Recently, our laboratory reported a polymorphism in the human NET (hNET) gene A457P in an individual with the autonomic disorder orthostatic intolerance (OI). The presence of the hNET-A457P allele tracked with elevated heart rates and plasma NE levels in family members. hNET-A457P lacks >98% transport activity in several heterologous expression systems. In the present work, Western blot and biotinylation analyses performed in transiently transfected COS-7 cells revealed impairment in processing of hNET-A457P to the fully glycosylated form and a decrease in surface expression to approximately 30% of hNET-wild type (hNET-wt). Because the hNET-A457P mutation is carried on a single allele in OI subjects, we examined the influence of cotransfection of hNET-wt and hNET-A457P and found that hNET-A457P exerts a dominant-negative effect on hNET-wt uptake activity. Experiments to determine oligomerization as a potential mechanism of the dominant-negative effect demonstrated that hNET-A457P coimmunoprecipitates with, and diminishes surface expression of, hNET-wt. These results reveal that hNET-A457P causes a conformational disruption that interferes with transporter biosynthetic progression and trafficking of both the mutant transporter and hNET-wt. These results elucidate a molecular mechanism for the disrupted NE homeostasis and cardiovascular function evident in OI patients with the hNET-A457P mutation.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Autonomic Nervous System Diseases / genetics*
  • Autonomic Nervous System Diseases / physiopathology
  • Binding Sites / physiology
  • Binding, Competitive / physiology
  • Blotting, Western
  • COS Cells / metabolism
  • Cell Membrane / metabolism*
  • Genes, Dominant
  • Glycosylation
  • Humans
  • Mutation*
  • Norepinephrine Plasma Membrane Transport Proteins
  • Posture
  • Precipitin Tests
  • Protein Binding / physiology
  • Protein Processing, Post-Translational / genetics
  • Protein Transport / physiology
  • Symporters / genetics*
  • Symporters / metabolism
  • Transfection

Substances

  • Norepinephrine Plasma Membrane Transport Proteins
  • SLC6A2 protein, human
  • Symporters