Department of Biology, Georgia State University, 50 Decatur Street, Atlanta, GA 30302, United States.
Department of Biology, Georgia State University, 50 Decatur Street, Atlanta, GA 30302, United States.
Neuroscience. 2019 Jan 15;397:107-115. doi: 10.1016/j.neuroscience.2018.11.011. Epub 2018 Nov 17.
People with Rett Syndrome (RTT), a neurodevelopmental disorder caused by mutations in the MECP2 gene, have breathing abnormalities manifested as periodical hypoventilation with compensatory hyperventilation, which are attributable to a high incidence of sudden death. Similar breathing abnormalities have been found in animal models with Mecp2 disruptions. Although RTT-type hypoventilation is believed to be due to depressed central inspiratory activity, whether this is true remains unknown. Here we show evidence for reshaping in firing activity and patterns of medullary respiratory neurons in RTT-type hypoventilation without evident depression in inspiratory neuronal activity. Experiments were performed in decerebrate rats in vivo. In Mecp2-null rats, abnormalities in breathing patterns were apparent in both decerebrate rats and awake animals, suggesting that RTT-type breathing abnormalities take place in the brainstem without forebrain input. In comparison to their wild-type counterparts, both inspiratory and expiratory neurons in Mecp2-null rats extended their firing duration, and fired more action potentials during each burst. No changes in inspiratory or expiratory neuronal distributions were found. Most inspiratory neurons started firing in the middle of expiration and changed their firing pattern to a phase-spanning type. The proportion of post-inspiratory neurons was reduced in the Mecp2-null rats. With the increased firing activity of both inspiratory and expiratory neurons in null rats, phrenic discharges shifted to a slow and deep breathing pattern. Thus, the RTT-type hypoventilation appears to result from reshaping of firing activity of both inspiratory and expiratory neurons without evident depression in central inspiratory activity.
患有雷特综合征(RTT)的人,一种由 MECP2 基因突变引起的神经发育障碍,有呼吸异常表现为周期性低通气伴代偿性过度通气,这归因于高猝死率。在 Mecp2 中断的动物模型中也发现了类似的呼吸异常。虽然 RTT 型低通气被认为是由于中枢吸气活动受到抑制,但这是否属实仍不清楚。在这里,我们提供证据表明,在 RTT 型低通气中,呼吸神经元的放电活动和模式发生了重塑,而吸气神经元的活动并没有明显抑制。实验在体内去大脑大鼠中进行。在 Mecp2 缺失大鼠中,去大脑大鼠和清醒动物都明显存在呼吸模式异常,这表明 RTT 型呼吸异常发生在脑干,而不受前脑输入的影响。与野生型相比,Mecp2 缺失大鼠的吸气和呼气神经元都延长了其放电持续时间,并在每次爆发中发出更多的动作电位。没有发现吸气或呼气神经元分布的变化。大多数吸气神经元在呼气中期开始放电,并改变其放电模式为相位跨越型。Mecp2 缺失大鼠的后吸气神经元比例减少。由于缺失大鼠的吸气和呼气神经元放电活动增加,膈神经放电向缓慢而深的呼吸模式转变。因此,RTT 型低通气似乎是由于吸气和呼气神经元的放电活动重塑而导致的,而中枢吸气活动没有明显抑制。