Molecular diagnosis of the alterations in the GHRH-GH-IGF-1 axis in patients with ...
| Grant number: | 09/00313-3 |
| Support type: | Regular Research Grants |
| Duration: | April 01, 2009 - March 31, 2011 |
| Field of knowledge: | Health Sciences - Medicine |
| Principal Investigator: | 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)