Human phenotypes and animal knockout models of genetic autonomic disorders.

Usera PC, Vincent S, Robertson D
J Biomed Sci. 2004 11 (1): 4-10

PMID: 14730204 · DOI:10.1007/bf02256543

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.

Copyright 2004 National Science Council, ROC and S. Karger AG, Basel

MeSH Terms (15)

Animals Autonomic Nervous System Diseases Disease Models, Animal Dopamine beta-Hydroxylase Humans Membrane Glycoproteins Membrane Transport Proteins Mice Mice, Knockout Neuropeptides Norepinephrine Plasma Membrane Transport Proteins Phenotype Symporters Vesicular Biogenic Amine Transport Proteins Vesicular Monoamine Transport Proteins

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