Lancet：钠通道Nav1.4功能突变与婴儿猝死综合症

2018-04-02 zhangfan MedSci原创

研究认为罕见的SCN4A突变直接改变了新生儿NaV1.4功能导致婴儿猝死综合症，变异可导致患儿肌肉膜兴奋性改变，呼吸和喉功能损伤

婴儿猝死综合症(SIDS)是发达国家新生儿产后死亡的主要原因，中央呼吸系统功能障碍是主要的死亡原因之一。SCN4A基因编码的钠通道Nav1.4是驱动骨骼呼吸肌收缩兴奋的重要生理因素，NaV1.4突变可直接改变骨骼肌兴奋性，从而引起肌张力障碍、周期性麻痹、先天性肌病以及肌无力综合征。SCN4A突变与婴儿呼吸暂停和喉痉挛相关。近日研究人员考察了罕见的功能破坏性SCN4A突变与SIDS之间的相关性。

本次病例对照研究包含2个队列，队列1包含278名SIDS患者，队列2包含729名对照者。研究人员考察组间罕见SCN4A突变频率差异（等位基因频率<0.00005）。

SIDS队列中存在4例（1.4%）罕见的功能破坏性SCN4A突变，而对照队列中未发现这种突变(p=0.0057)。

研究认为罕见的SCN4A突变直接改变了新生儿NaV1.4功能导致婴儿猝死综合症，变异可导致患儿肌肉膜兴奋性改变，呼吸和喉功能损伤。

原始出处：

Roope Mannikko et al. Dysfunction of NaV1.4， a skeletal muscle voltage-gated sodium channel， in sudden infant death syndrome： a case-control study.Lancet.28 March 2018.

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#插入话题

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2018-07-23 howi

#Lancet#

67 0
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2018-04-06 秀红

学习了

96 0
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2018-04-04 雅文博武

学习了很多先进的医学知识

102 0
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2018-04-02 ziguoyuan

学习了.研究的很深入!

87 0
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2018-04-02 13718711b3m

学习了.获益匪浅.感谢分享

84 0
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2018-04-02 Jackie Li

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