Autor(es)

Vasques, Gabriela A. ^{[1, 2]} ; Arnhold, Ivo J. P. ^[2] ; Jorge, Alexander A. L. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Lab Endocrinol Celular Mol LIM 25, Unidade Endocrinol Genet, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Lab Hormonios Genet Mol LIM, Unidade Endocrinol Desenvolvimento, Hosp Clin, Sao Paulo - Brazil

• Tipo de documento: Artigo de Revisão
• Fonte: Hormone Research in Paediatrics; v. 82, n. 4, p. 222-229, 2014.
• Citações Web of Science: 23

Resumo

The C-type natriuretic peptide (CNP) and its receptor (NPR-B) are recognized as important regulators of longitudinal growth. Animal models involving CNP or NPR-B genes (Nppc or Npr2) support the fundamental role of CNP/NPR-B for endochondral ossification. Studies with these animals allow the development of potential drug therapies for dwarfism. Polymorphisms in two genes related to the CNP pathway have been implicated in height variability in healthy individuals. Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause acromesomelic dysplasia type Maroteux, a skeletal dysplasia with extremely short stature. Heterozygous mutations in NPR2 are responsible for nonsyndromic familial short stature. Conversely, heterozygous gain-of-function mutations in NPR2 cause tall stature, with a variable phenotype. A phase 2 multicenter and multinational trial is being developed to evaluate a CNP analog treatment for achondroplasia. Pediatricians and endocrinologists must be aware of growth disorders related to natriuretic peptides, although there is still much to be learned about its diagnostic and therapeutic use. (C) 2014 S. Karger AG, Basel (AU)

• Processo FAPESP: 11/11801-9 - Pesquisa de mutações no gene do receptor do peptídeo natriurético do tipo C (NPR2) em indivíduos com baixa estatura idiopática
• Beneficiário: Gabriela de Andrade Vasques
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto
• Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
• Beneficiário: Alexander Augusto de Lima Jorge
• Modalidade de apoio: Auxílio à Pesquisa - Temático