Human phenotypes and animal knockout models of genetic autonomic disorders.

Norepinephrine (NE) is a crucial neurotransmitter involved in autonomic regulation of blood pressure. Dopamine beta-hydroxylase (DBH), the norepinephrine transporter (NET), and the vesicular monoamine transporter subtype 2 catalyze intracellular NE biosynthesis, NE reuptake from the synapse, and vesicular transport, respectively. Genetic disorders in humans have been identified that render DBH, and the NET dysfunctional and result in cardiovascular and neurological abnormalities. Vesicular monoamine transporter subtype 2 (VMAT2) activity protects against neurotoxins, and reduced VMAT2 expression is implicated in drug addiction. Further investigation of the consequences of these genetic abnormalities has been achieved by the construction of mice strains deficient in the genes encoding DBH, NET, and VMAT2.
AuthorsPhillip C Usera, Simi Vincent, David Robertson
JournalJournal of biomedical science (J Biomed Sci) 2004 Jan-Feb Vol. 11 Issue 1 Pg. 4-10 ISSN: 1021-7770 [Print] Switzerland
PMID14730204 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S., Review)
CopyrightCopyright 2004 National Science Council, ROC and S. Karger AG, Basel
Chemical References
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Neuropeptides
  • Norepinephrine Plasma Membrane Transport Proteins
  • SLC18A2 protein, human
  • SLC6A2 protein, human
  • Slc18a2 protein, mouse
  • Slc6a2 protein, mouse
  • Symporters
  • Vesicular Biogenic Amine Transport Proteins
  • Vesicular Monoamine Transport Proteins
  • Dopamine beta-Hydroxylase
  • Animals
  • Autonomic Nervous System Diseases (genetics)
  • Disease Models, Animal
  • Dopamine beta-Hydroxylase (genetics, metabolism)
  • Humans
  • Membrane Glycoproteins (genetics, metabolism)
  • Membrane Transport Proteins
  • Mice
  • Mice, Knockout
  • Neuropeptides
  • Norepinephrine Plasma Membrane Transport Proteins
  • Phenotype
  • Symporters (genetics, metabolism)
  • Vesicular Biogenic Amine Transport Proteins
  • Vesicular Monoamine Transport Proteins

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