Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Pantel, J. et al.

Pantel, Legendre, Cabrol, Hilal, Hajaji, Morisset, Nivot, Vie-Luton, Grouselle, de Kerdanet, Kadiri, Epelbaum, Le Bouc, Amselem,

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown recently through in vitro means, this receptor displays a constitutive activity whose clinical relevance is unknown. Although pharmacological studies have demonstrated that its endogenous ligand--ghrelin--stimulates, through the GHSR, GH secretion and appetite, the physiological importance of the GHSR-dependent pathways remains an open question that gives rise to much controversy. We report the identification of a GHSR missense mutation that segregates with short stature within 2 unrelated families. This mutation, which results in decreased cell-surface expression of the receptor, selectively impairs the constitutive activity of the GHSR, while preserving its ability to respond to ghrelin. This first description, to our knowledge, of a functionally significant GHSR mutation, which unveils the critical importance of the GHSR-associated constitutive activity, discloses an unusual pathogenic mechanism of growth failure in humans.[1]

References

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. Pantel, J., Legendre, M., Cabrol, S., Hilal, L., Hajaji, Y., Morisset, S., Nivot, S., Vie-Luton, M.P., Grouselle, D., de Kerdanet, M., Kadiri, A., Epelbaum, J., Le Bouc, Y., Amselem, S. J. Clin. Invest. (2006) [Pubmed]

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