Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias
2010; Japan Endocrine Society; Volume: 57; Issue: 8 Linguagem: Inglês
10.1507/endocrj.k10e-164
ISSN1348-4540
Autores Tópico(s)ATP Synthase and ATPases Research
ResumoBy using transgenic and knockout mice, we have elucidated that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth. In humans, loss-of-function mutations in the gene coding for guanylyl cyclase-B (GC-B), the specific receptor for CNP, have been proved to be the cause of acromesomelic dysplasia, type Maroteaux, one form of human skeletal dysplasias. Following these results, we have started to translate the stimulatory effect of CNP on endochondral bone growth into the therapy for patients with skeletal dysplasias. We have shown that targeted overexpression of CNP in cartilage or systemic administration of CNP reverses the impaired skeletal growth of mice model of achondroplasia, the most common form of human skeletal dysplasias.
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