Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias.
Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias.
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DOI：
10.1507/endocrj.k10e-164
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发表时间：
2010-08
影响因子：
2
通讯作者：
A. Yasoda;K. Nakao
中科院分区：
文献类型：
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作者：
A. Yasoda;K. Nakao
通过使用转基因和基因敲除小鼠，我们已经阐明，C型利钠肽（CNP）是一种有效的刺激软骨内骨生长。在人类中，已证明编码CNP特异性受体鸟苷酸环化酶-B（GC-B）的基因的功能缺失突变是导致肢端中肢发育不良（Maroteaux型，人类骨骼发育不良的一种形式）的原因。根据这些结果，我们已经开始将CNP对软骨内骨生长的刺激作用转化为骨骼发育不良患者的治疗。我们已经证明，CNP在软骨中的靶向过表达或CNP的全身给药逆转了软骨发育不全小鼠模型（人类骨骼发育不良的最常见形式）受损的骨骼生长。
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.