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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. | LitMetric
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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Grace Yoon Zeenat Malam Tara Paton Christian R Marshall Ella Hyatt Zhenya Ivakine Stephen W Scherer Kyong-Soon Lee Cynthia Hawkins Ronald D Cohn

J Pediatr

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Published: April 2016

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.

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 Source
http://dx.doi.org/10.1016/j.jpeds.2015.12.060DOI Listing

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