Ghrelin receptor mutations--too little height and too much hunger

Birgitte Holst; Thue W Schwartz

doi:10.1172/JCI27999

Ghrelin receptor mutations--too little height and too much hunger

Birgitte Holst, Thue W Schwartz

Department of Neuroscience

85 Citations (Scopus)

Abstract

The ghrelin receptor is known from in vitro studies to signal in the absence of the hormone ghrelin at almost 50% of its maximal capacity. But, as for many other 7-transmembrane receptors, the in vivo importance of this ligand-independent signaling has remained unclear. In this issue of the JCI, Pantel et al. find that a natural mutation in the ghrelin receptor, Ala204Glu, which is associated with a selective loss of constitutive activity without affecting ghrelin affinity, potency, or efficacy, segregates in 2 families with the development of short stature (see the related article beginning on page 760). By combination of the observations from this study with those related to the phenotype of subjects carrying another natural ghrelin receptor mutation, Phe279Leu, having identical molecular-pharmacological properties, it is proposed that selective lack of ghrelin receptor constitutive signaling leads to a syndrome characterized not only by short stature, but also by obesity that apparently develops during puberty.

Original language	English
Journal	Journal of Clinical Investigation
Volume	116
Issue number	3
Pages (from-to)	637-41
Number of pages	4
ISSN	0021-9738
DOIs	https://doi.org/10.1172/JCI27999
Publication status	Published - 2006

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title = "Ghrelin receptor mutations--too little height and too much hunger",

abstract = "The ghrelin receptor is known from in vitro studies to signal in the absence of the hormone ghrelin at almost 50% of its maximal capacity. But, as for many other 7-transmembrane receptors, the in vivo importance of this ligand-independent signaling has remained unclear. In this issue of the JCI, Pantel et al. find that a natural mutation in the ghrelin receptor, Ala204Glu, which is associated with a selective loss of constitutive activity without affecting ghrelin affinity, potency, or efficacy, segregates in 2 families with the development of short stature (see the related article beginning on page 760). By combination of the observations from this study with those related to the phenotype of subjects carrying another natural ghrelin receptor mutation, Phe279Leu, having identical molecular-pharmacological properties, it is proposed that selective lack of ghrelin receptor constitutive signaling leads to a syndrome characterized not only by short stature, but also by obesity that apparently develops during puberty.",

author = "Birgitte Holst and Schwartz, {Thue W}",

note = "Keywords: Amino Acid Substitution; Body Height; Ghrelin; Humans; Hunger; Obesity; Peptide Hormones; Puberty; Receptors, G-Protein-Coupled; Receptors, Ghrelin; Signal Transduction; Syndrome",

year = "2006",

doi = "10.1172/JCI27999",

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journal = "Journal of Clinical Investigation",

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AU - Holst, Birgitte

AU - Schwartz, Thue W

N1 - Keywords: Amino Acid Substitution; Body Height; Ghrelin; Humans; Hunger; Obesity; Peptide Hormones; Puberty; Receptors, G-Protein-Coupled; Receptors, Ghrelin; Signal Transduction; Syndrome

PY - 2006

Y1 - 2006

N2 - The ghrelin receptor is known from in vitro studies to signal in the absence of the hormone ghrelin at almost 50% of its maximal capacity. But, as for many other 7-transmembrane receptors, the in vivo importance of this ligand-independent signaling has remained unclear. In this issue of the JCI, Pantel et al. find that a natural mutation in the ghrelin receptor, Ala204Glu, which is associated with a selective loss of constitutive activity without affecting ghrelin affinity, potency, or efficacy, segregates in 2 families with the development of short stature (see the related article beginning on page 760). By combination of the observations from this study with those related to the phenotype of subjects carrying another natural ghrelin receptor mutation, Phe279Leu, having identical molecular-pharmacological properties, it is proposed that selective lack of ghrelin receptor constitutive signaling leads to a syndrome characterized not only by short stature, but also by obesity that apparently develops during puberty.

AB - The ghrelin receptor is known from in vitro studies to signal in the absence of the hormone ghrelin at almost 50% of its maximal capacity. But, as for many other 7-transmembrane receptors, the in vivo importance of this ligand-independent signaling has remained unclear. In this issue of the JCI, Pantel et al. find that a natural mutation in the ghrelin receptor, Ala204Glu, which is associated with a selective loss of constitutive activity without affecting ghrelin affinity, potency, or efficacy, segregates in 2 families with the development of short stature (see the related article beginning on page 760). By combination of the observations from this study with those related to the phenotype of subjects carrying another natural ghrelin receptor mutation, Phe279Leu, having identical molecular-pharmacological properties, it is proposed that selective lack of ghrelin receptor constitutive signaling leads to a syndrome characterized not only by short stature, but also by obesity that apparently develops during puberty.

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JO - Journal of Clinical Investigation

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Ghrelin receptor mutations--too little height and too much hunger

Abstract

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