Clinical and basic studies on the dynamics of ghrelin in Rett syndrome (RTT) together with a pilot-study on the clinical implication of ghrelin for the treatment of RTT-patients.

在这项研究中，我们研究了生长激素释放肽的生产动力学与Rett综合征（RTT）患者与mecp 2基因敲除小鼠模型的RTT（RTT-小鼠）。我们还通过使用这种RTT-小鼠检查了“生长激素释放肽注射”对RTT的几种临床症状的有效性。在伴有进食障碍或胃肠运动功能不全的RTT患者中，血浆ghrelin水平显著降低。在RT小鼠中还观察到胃饥饿素产生的失调。每天注射Ghrelin可改善RTT小鼠6-9周龄的临床症状，包括“震颤”、“步态障碍”、“后肢紧握”和“营养不良”（体重减轻）。我们的这些发现支持了“生长激素释放肽治疗”对RTT患者常见的几种临床症状的未来意义。

In this study, we investigated the dynamics of ghrelin production in patients with Rett syndrome (RTT) together with that in mecp2-null mouse model of RTT (RTT-mouse). We also examined the effectiveness of “ghrelin-injection” on several clinical symptoms of RTT by using this RTT-mouse. Plasma levels of ghrelin were significantly lower in RTT patients with eating disorder or patients with insufficiency in gastro-intestinal movement. Deregulation of ghrelin production was also noted in the RTT-mouse. Daily injection of ghrelin into the RTT-mouse ameliorated the clinical symptom of them including “tremor”, “gait disturbance”, “hindlimb clasping” and “malnutrition” (body weight loss) from 6-9 weeks age. These findings of us support the future implication of “ghrelin-treatment” against several clinical symptoms typically seen in RTT patients.