Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
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DOI：
10.1016/j.jpeds.2015.12.060
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发表时间：
2016-04-01
影响因子：
5.1
通讯作者：
Cohn, Ronald D.
中科院分区：
文献类型：
--
作者：
Yoon, Grace;Malam, Zeenat;Cohn, Ronald D.
我们描述了两个婴儿，由于DNM1L的两个无义突变的复合杂合性，导致低眼压，呼吸困难和神经元中巨大的线粒体。DNM1L在调节线粒体的形态和功能方面起着关键作用。这一观察证实了线粒体分裂对正常人类发育的核心作用。
We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.