Study of growth hormone secretagogue receptor (GHSR) gene in children with isolated growth hormone deficiency and children with idiopatic short stature

• Grant number: 09/00313-3
• Support type: Regular Research Grants
• Duration: April 01, 2009 - March 31, 2011
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal researcher: Alexander Augusto de Lima Jorge
• Grantee: Alexander Augusto de Lima Jorge
• Home Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Growth hormone (GH) pulsatile secretion is mainly regulated by two hypothalamic hormones: the Growth Hormone Releasing Hormone (GHRH) and Somatostatin. The first hormone stimulates GH secretion, whereas the other inhibits GH secretion. Ghrelin is another hormone involved in growth hormone (GH) release, as well as control of food intake and energy expenditure. Ghrelin is is predominantly produced by the stomach whose plasma levels fluctuate with food intake. Receptors for ghrelin, the growth hormone secretagogue receptor (GHSR), are expressed by neurons in the arcuate nucleus and the ventromedial hypothalamus. To date, only one study has evaluated mutation in GHSR in children with short stature. This study identified GHSR mutations in children with isolated GH deficiency (GHD) and children with idiopathic short stature (ISS). GHSR is a good candidate gene to explain a decrease in GH secretion and consequently short stature. The aim of our study is to investigate defects in GHSR gene in 100 children with ISS and 20 isolated GHD children with normal MRI whom mutations in GH1 and GHRHR gene were rule out. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

PUGLIESE-PIRES, PATRICIA N.; TONELLI, CARLOS A.; DORA, JOSE M.; SILVA, PAULO C. A.; CZEPIELEWSKI, MAURO; SIMONI, GENOIR; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 163, n. 2, p. 349-355, AUG 2010. (09/00313-3)

PUGLIESE-PIRES, PATRICIA N.; FORTIN, JEAN-PHILIPPE; ARTHUR, THAIS; LATRONICO, ANA CLAUDIA; MENDONCA, BERENICE B.; VILLARES, SANDRA MARA F.; PARNHOLD, IVO J.; KOPIN, ALAN S.; JORGE, ALEXANDER A. L.. Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 165, n. 2, p. 233-241, AUG 2011. (09/00313-3)