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Title: Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release.
Austin Authors: Fedi, Marco;Bach, Leon A;Berkovic, Samuel F ;Willoughby, John O;Scheffer, Ingrid E ;Reutens, David C
Affiliation: Department of Medicine, Austin Hospital, The University of Melbourne, Heidelberg, Victoria 3084 Australia
Issue Date: 27-Nov-2007
Publication information: The Journal of Clinical Endocrinology and Metabolism 2007; 93(2): 634-7
Abstract: Pulsatile GH secretion from the anterior pituitary is a key mediator of human growth regulation and is affected by a number of genetic and environmental factors. Activation of neuronal nicotinic acetylcholine (nACh) receptors promotes GH release, but the role of these receptors in growth regulation is unknown.Our aim was to assess the effect of a mutation in the alpha4 subunit of the nACh receptor on cholinergic-mediated GH release.Forty-one healthy volunteers (24 male, age 36.2 +/- 12.2 yr, mean +/- sd) and 13 subjects with the alpha4-Ser248Phe mutation (four male, age 43.2 +/- 16.8 yr) were studied. Serum levels of GH, LH, FSH, prolactin, TSH, free T(4), and cortisol were measured at baseline and at regular intervals after infusion of physostigmine. Height and weight were recorded in all participants as well as from additional family members with (n = 11, four male) and without (n = 16, seven male) the mutation.Subjects with the mutation were shorter (1.62 +/- 0.08 vs. 1.72 +/- 0.09 m, P < 0.05) and had a greater body mass index (31 +/- 6 vs. 24 +/- 3 kg/m(2), P < 0.05) than healthy volunteers and unaffected members of the pedigree. In controls, physostigmine markedly increased the serum levels of GH (mean increase, +732%). In contrast, the response to physostigmine was markedly blunted in subjects with the mutation (+104%, P > 0.2 vs. control).These findings suggest a role of the nACh receptor in human growth regulation.
Gov't Doc #: 18042647
DOI: 10.1210/jc.2007-1611
Journal: The Journal of Clinical Endocrinology and Metabolism
Type: Journal Article
Subjects: Adolescent
Body Height.genetics
Body Mass Index
Cholinesterase Inhibitors.pharmacology
Follicle Stimulating Hormone.blood
Growth Disorders.blood.genetics
Human Growth Hormone.blood.physiology
Luteinizing Hormone.blood
Middle Aged
Point Mutation
Receptors, Nicotinic.genetics
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