Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Autor: Yoon G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address: grace.yoon@utoronto.ca., Malam Z; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Paton T; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Marshall CR; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Hyatt E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Ivakine Z; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Scherer SW; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Lee KS; Division of Neonatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Hawkins C; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Cohn RD; 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.
Jazyk: angličtina
Zdroj: The Journal of pediatrics [J Pediatr] 2016 Apr; Vol. 171, pp. 313-6.e1-2. Date of Electronic Publication: 2016 Jan 26.
DOI: 10.1016/j.jpeds.2015.12.060
Abstrakt: 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.
(Copyright © 2016 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: