一种新的临床综合征，揭示了毒蕈碱 M3 受体的缺乏。
A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor.
机构信息
Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany
出版信息
Neurology. 2011 Feb 1;76(5):451-5. doi: 10.1212/WNL.0b013e31820a0a75.
OBJECTIVES
No clinical disorders have been caused by dysfunction of any of the 5 subtypes (M1-M5) of muscarinic receptors. We present a patient with a novel clinical syndrome that we suggest results from a deficiency of the muscarinic M3 receptor.
METHODS
We conducted a comprehensive workup of autonomic function. The patient's disorder was compared to the phenotypic features of male M3 knockout mice. M3 protein quantity was assessed by Western blot and radioligand binding in peripheral blood lymphocytes. Tests for autoantibodies and genetic abnormalities were performed.
RESULTS
The disease pattern was characterized by disturbances in micturition, pupil constriction, body weight, and sudomotor function, with normal accommodation, gastrointestinal motility, salivation, and lacrimation, similar to features of male M3 knockout mice. M3 protein quantity was reduced. Genetic tests were unrevealing, but unspecific antinuclear antibodies were present.
CONCLUSIONS
The presented clinical syndrome suggests a deficiency of the muscarinic M3 receptor. These results and future evaluation of patients with autonomic deficits may provide insights into the site and functional role of the muscarinic M3 receptor in humans.
目的
目前尚未发现任何一种毒蕈碱受体（M1-M5）亚型的功能障碍会导致临床疾病。我们报告了一例新的临床综合征患者，我们认为该综合征是由毒蕈碱 M3 受体缺乏引起的。
方法
我们对自主神经功能进行了全面检查。将患者的疾病与雄性 M3 基因敲除小鼠的表型特征进行了比较。通过 Western blot 和放射性配体结合试验检测外周血淋巴细胞中的 M3 蛋白含量。还进行了自身抗体和遗传异常的检测。
结果
疾病表现为排尿、瞳孔收缩、体重和出汗功能障碍，而调节、胃肠道动力、唾液分泌和流泪功能正常，与雄性 M3 基因敲除小鼠的特征相似。M3 蛋白含量减少。基因检测未发现异常，但存在非特异性核抗体。
结论
所呈现的临床综合征提示毒蕈碱 M3 受体缺乏。这些结果以及对自主神经功能障碍患者的未来评估，可能有助于深入了解毒蕈碱 M3 受体在人类中的作用部位和功能。
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