A GPR54-activating mutation in a patient with central precocious puberty

Autor(es)

Teles, Milena Gurgel ; Bianco, Suzy D. C. ; Brito, Vinicius Nahime ; Trarbach, Ericka B. ; Kuohung, Wendy ; Xu, Shuyun ; Seminara, Stephanie B. ; Mendonca, Berenice B. ; Kaiser, Ursula B. ; Latronico, Ana Claudia ^[10]

• Tipo de documento: Artigo Científico
• Fonte: New England Journal of Medicine; v. 358, n. 7, p. 709-715, Feb. 2008.
• Área do conhecimento: Ciências da Saúde - Medicina
• Assunto(s): Técnicas genéticas Análise de sequência Proteínas supressoras de tumor MAP quinases reguladas por sinal extracelular Bases de dados de ácidos nucleicos Fosforilação

Resumo

Gonadotropin-dependent, or central, precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. In girls, this condition is most often idiopathic. Recently, a G protein-coupled receptor, GPR54, and its ligand, kisspeptin, were described as an excitatory neuroregulator system for the secretion of gonadotropin-releasing hormone (GnRH). In this study, we have identified an autosomal dominant GPR54 mutation - the substitution of proline for arginine at codon 386 (Arg386Pro) - in an adopted girl with idiopathic central precocious puberty (whose biologic family was not available for genetic studies). In vitro studies have shown that this mutation leads to prolonged activation of intracellular signaling pathways in response to kisspeptin. The Arg386Pro mutant appears to be associated with central precocious puberty. (AU)

• Processo FAPESP: 05/50146-5 - Estudo do gene GPR54 nos distúrbios puberais humanos idiopáticos de origem central
• Beneficiário: Milena Gurgel Teles Bezerra
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto
• Processo FAPESP: 05/04726-0 - Caracterização molecular das doenças endócrinas congênitas que afetam o crescimento e o desenvolvimento
• Beneficiário: Ana Claudia Latronico Xavier
• Modalidade de apoio: Auxílio à Pesquisa - Temático