Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias.
By 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.
Yasoda
Akihiro
A
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto, Japan. yasoda@kuhp.kyoto-u.ac.jp
Nakao
Kazuwa
K
D000130:Achondroplasia / Q000235:genetics / Q000628:therapy; D000818:Animals; D001846:Bone Development / Q000235:genetics / Q000502:physiology; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000628:therapy; D015870:Gene Expression; D006132:Growth Plate / Q000378:metabolism; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D009154:Mutation; D020098:Natriuretic Peptide, C-Type / Q000235:genetics / Q000502:physiology*; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics; D000099242:Atrial Natriuretic Factor Receptor B
D020098:Natriuretic Peptide, C-Type; D017461:Receptors, Atrial Natriuretic Factor; D000099242:Atrial Natriuretic Factor Receptor B