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

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Ghrelin receptor mutations--too little height and too much hunger. / Holst, Birgitte; Schwartz, Thue W.

In: Journal of Clinical Investigation, Vol. 116, No. 3, 2006, p. 637-41.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Holst, B & Schwartz, TW 2006, 'Ghrelin receptor mutations--too little height and too much hunger', Journal of Clinical Investigation, vol. 116, no. 3, pp. 637-41. https://doi.org/10.1172/JCI27999

APA

Holst, B., & Schwartz, T. W. (2006). Ghrelin receptor mutations--too little height and too much hunger. Journal of Clinical Investigation, 116(3), 637-41. https://doi.org/10.1172/JCI27999

Vancouver

Holst B, Schwartz TW. Ghrelin receptor mutations--too little height and too much hunger. Journal of Clinical Investigation. 2006;116(3):637-41. https://doi.org/10.1172/JCI27999

Author

Holst, Birgitte ; Schwartz, Thue W. / Ghrelin receptor mutations--too little height and too much hunger. In: Journal of Clinical Investigation. 2006 ; Vol. 116, No. 3. pp. 637-41.

Bibtex

@article{eb6d2680fad511ddb219000ea68e967b,
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",
language = "English",
volume = "116",
pages = "637--41",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "American Society for Clinical Investigation",
number = "3",

}

RIS

TY - JOUR

T1 - Ghrelin receptor mutations--too little height and too much hunger

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.

U2 - 10.1172/JCI27999

DO - 10.1172/JCI27999

M3 - Journal article

C2 - 16511600

VL - 116

SP - 637

EP - 641

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 3

ER -

ID: 10536167