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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >A human mutation in Phox2b causes lack of CO_2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons
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A human mutation in Phox2b causes lack of CO_2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

机译：人类在Phox2b中的突变导致缺乏CO_2化学敏感性，致命的中枢性呼吸暂停和特定的面神经元丢失

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摘要

Breathing is maintained and controlled by a network of neurons in the brainstem that generate respiratory rhythm and provide regulatory input. Central chemoreception, the mechanism for CO_2 detection that provides an essential stimulatory input, is thought to involve neurons located near the medullary surface, whose nature is controversial. Good candidates are serotonergic medullary neurons and glutamatergic neurons in the parafacial region. Here, we show that mice bearing a mutation in Phox2b that causes congenital central hypoventilation syndrome in humans breathe irregularly, do not respond to an increase in CO_2, and die soon after birth from central apnea. They specifically lack Phox2b-expressing glutamatergic neurons located in the parafacial region, whereas other sites known or supposed to be involved in the control of breathing are anatomically normal. These data provide genetic evidence for the essential role of a specific population of medullary interneurons in driving proper breathing at birth and will be instrumental in understanding the etiopathology of congenital central hypoventilation syndrome.
机译：呼吸由脑干中的神经元网络维持和控制，这些神经元网络会产生呼吸节律并提供调节输入。中央化学感受器（一种提供必要的刺激性输入的CO_2检测机制）被认为涉及位于髓质表面附近的神经元，其性质是有争议的。面神经区域的血清素能神经元神经元和谷氨酸能神经元是很好的候选者。在这里，我们显示携带Phox2b突变的小鼠导致人类先天性中枢通气不足综合征，呼吸不规则，对CO_2的增加无反应，并在出生后因中枢性呼吸暂停而死亡。他们特别缺乏位于颌面区域的表达Phox2b的谷氨酸能神经元，而其他已知或应该参与呼吸控制的部位在解剖学上是正常的。这些数据为特定人群的髓间神经元在驱动出生时正确呼吸中的重要作用提供了遗传学证据，并将有助于了解先天性中央通气不足综合征的病因。

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