2001
DOI: 10.1111/j.1749-6632.2001.tb03703.x
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Abstract: Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a syndrome primarily affecting young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. There is typically tachycardia and raised plasma norepinephrine levels on upright posture, but little or no orthostatic hypotension. The pathophysiology of OI is believed to be very heterogeneous. Most studies of the syndrome h… Show more

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Cited by 58 publications
(34 citation statements)
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“…9 Similarly, upright heart rate is increased in patients with genetic NET deficiency. 10 Nevertheless, how changes in sympathetic distribution influence the subtle interplay between vascular, cardiac, and renal function is unknown. In particular, how these alterations respond to a change in sympathetic nervous system activity remains unclear.…”
mentioning
confidence: 99%
“…9 Similarly, upright heart rate is increased in patients with genetic NET deficiency. 10 Nevertheless, how changes in sympathetic distribution influence the subtle interplay between vascular, cardiac, and renal function is unknown. In particular, how these alterations respond to a change in sympathetic nervous system activity remains unclear.…”
mentioning
confidence: 99%
“…After stimulated or spontaneous NE release, NETs rapidly clear NE from the synaptic cleft via efficient transport system attenuating signaling (9), and recycling 90% of synaptic NE (10). A polymorphism in hNET causing decreased uptake correlates with orthostatic intolerance (11)(12)(13). hNETs are targets for cocaine, antidepressants, amphetamines, and neurotoxins (14,15).…”
mentioning
confidence: 99%
“…The dihydroxyphenylglycol to norepinephrine ratio, which provides a crude biochemical estimate of norepinephrine uptake and metabolism, was reduced in A457P heterozygous family members. Chinese hamster ovary cells transiently transfected with the mutated NET showed Ͻ2% norepinephrine uptake activity compared with cells expressing wild-type NET (106,116). Subsequent studies revealed impairment in processing of NET-A457P and a decrease in cell surface expression to ϳ30% compared with the wild-type (45).…”
Section: Genetic Influences On Net Function and Familial Net Deficiencymentioning
confidence: 99%
“…Most of the functional polymorphisms code for NET variants with decreased norepinephrine affinity (14) [R121Q, N292T, A369P, Y548H (45), and A457P (106,116)]. However, genetic variants associated with increased NET function in vitro have been described as well [F528C (45)].…”
Section: Genetic Influences On Net Function and Familial Net Deficiencymentioning
confidence: 99%