Norepinephrine transporter gene

Kim, C. H., Kim, H. S., Cubells, J. F., 8c Kim, K. S. (1999). A previously undescribed intron and extensive 5 upstream sequence, but not Phox2a-mediated transactivation, are necessary for high level cell type-specific expression of the human norepinephrine transporter gene. /. Biol. Chem., 274, 6507-18. 

Yoshida, K., Takahashi, H., Higuchi, H. etal. (2004). Prediction of antidepressants response to milnacipran by norepinephrine transporter gene polymorphisms. Am. J. Psychiatry, 161(9), 1575-80. 

Wang YM, Xu F, Gainetdinov RR, Caron MG. 1999. Genetic approaches to studying norepinephrine function knockout of the mouse norepinephrine transporter gene. Biol. Psychiatry 46 1124-30... 

Familial dysautonomia, dopamine [i-liydroxylase deficiency, norepinephrine transporter deficiency, and congenital adrenal hyperplasia include dysautonomias or conditions associated with adrenal medullary dysfunction in which the specific genetic abnormalities have been identified. There are also other disorders involving mutations of genes coding for proteins involved in catecholamine synthesis and metabolism in which the clinical manifestations do not clearly involve the sympathoadrenal systems or may be so globally severe that abnormalities of autonomic or adrenal medullary function are obscured (Table 29-5). 

The vesicular monoamine transporters (VMATs) were identified in a screen for genes that confer resistance to the parkinsonian neurotoxin MPP+ [2]. The resistance apparently results from sequestration of the toxin inside vesicles, away from its primary site of action in mitochondria. In addition to recognizing MPP+, the transporter s mediate the uptake of dopamine, ser otonin, epinephrine, and norepinephrine by neurons and endocrine cells. Structurally, the VMATs show no relationship to plasma membrane monoamine transporters. 

Gainetdinov RR, Caron MG (2003) Monoamine transporters from genes to behavior. Annu Rev Pharmacol Toxicol 43 261-284. Epub %2002 Sep 17 Garcia AS, Barrera G, Burke TF, Ma S, Hensler JG, Moiilak DA (2004) Autoreceptor-mediated inhibition of norepinephrine release in rat medial prefrontal cortex is maintained after chronic desipramine treatment. J Neurochem 91 683-693 Gelb DJ, Oliver E, Gilman S (1999) Diagnostic criteria for Parkinson disease. Arch Neurol 56 33-39... 

The major clinical feature of patients with deficiency of dopamine p-hydroxylase is orthostatic hypotension caused by reduced synthesis and release of norepinephrine by sympathetic nerves. The deficiency is characterized neuro-chemically by decreased levels of norepinephruie and norepinephrine metabolites and increased levels of dopamine and dopamine metabolites. Diagnosis is best achieved from an increased ratio of plasma dopamine to norepinephrine. Copper deficiency in Menkes disease is due to defects in the gene coding for a copper-transporting adenosine triphosphatase. Because dopamine p-hydroxylase is a copper-dependent enzyme, the deficiency is associated with decreased activity of the enzyme and reduced production of norepinephrine from dopamine. Prompt diagnosis at childbirth is essential for copper-replacement therapy, and... 

The field of psychiatry is predicated on the assumpt-tion that serious mental disorders result from abnormalities in the structure or function of the brain. Although no specific brain anomalies have been identified as the definitive cause of mental illness, the latest neuroscientific studies suggest that imbalances in neurochemicals—also called neurotransmitters— or malfunctions in their transportation from nerve cell to nerve cell might be responsible for the symptoms of mental illness, such as anxiety, depression, hallucinations, and delusions. Neurotransmitters include dopamine, norepinephrine, serotonin, and gamma-amino-butyric acid. Most experts believe that the causes of mental illness stem from a combination of genes (nature) and experiences (nurture). 

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