Nakamura Tomoki, Colbert Melissa, Krenz Maike, Molkentin Jeffery D, Hahn Harvey S, Dorn Gerald W, Robbins Jeffrey
Cincinnati Children's Hospital Medical Center, The Children's Hospital Research Foundation, Division of Molecular Cardiovascular Biology, Cincinnati, Ohio 45229-3039, USA.
J Clin Invest. 2007 Aug;117(8):2123-32. doi: 10.1172/JCI30756.
Noonan syndrome (NS) is an autosomal dominant disorder characterized by a wide spectrum of defects, which most frequently include proportionate short stature, craniofacial anomalies, and congenital heart disease (CHD). NS is the most common nonchromosomal cause of CHD, and 80%-90% of NS patients have cardiac involvement. Mutations within the protein tyrosine phosphatase Src homology region 2, phosphatase 2 (SHP2) are responsible for approximately 50% of the cases of NS with cardiac involvement. To understand the developmental stage- and cell type-specific consequences of the NS SHP2 gain-of-function mutation, Q79R, we generated transgenic mice in which the mutated protein was expressed during gestation or following birth in cardiomyocytes. Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and ventricular septal defects, while, in the postnatal cardiomyocyte, Q79R SHP2 expression was completely benign. Fetal expression of Q79R led to the specific activation of the ERK1/2 pathway, and breeding of the Q79R transgenics into ERK1/2-null backgrounds confirmed the pathway's necessity and sufficiency in mediating mutant SHP2's effects. Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.
努南综合征(NS)是一种常染色体显性疾病,其特征为广泛的缺陷,最常见的包括匀称性身材矮小、颅面畸形和先天性心脏病(CHD)。NS是CHD最常见的非染色体病因,80%-90%的NS患者有心脏受累。蛋白酪氨酸磷酸酶Src同源区2磷酸酶2(SHP2)内的突变约占NS合并心脏受累病例的50%。为了解NS相关的SHP2功能获得性突变Q79R在发育阶段和细胞类型特异性方面的影响,我们构建了转基因小鼠,使突变蛋白在妊娠期间或出生后在心肌细胞中表达。携带Q79R SHP2的胚胎心脏显示心肌细胞细胞周期改变、心室肌小梁疏松和室间隔缺损,而在出生后的心肌细胞中,Q79R SHP2的表达完全无害。Q79R的胎儿期表达导致ERK1/2通路的特异性激活,将Q79R转基因小鼠与ERK1/2基因敲除小鼠杂交证实了该通路在介导突变型SHP2效应方面的必要性和充分性。我们的数据确定了NS中Q79R在心脏表达的发育阶段特异性效应;表明消除随后的ERK1/2激活可预防心脏异常的发生;并提示ERK1/2调节可能对制定CHD治疗策略具有重要意义。