Journal
NEUROSCIENCE LETTERS
Volume 487, Issue 2, Pages 129-133Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2009.06.079
Keywords
Angelman syndrome; Mitochondrial complexes; Synaptic vesicle; Electron microscopy; UBE3A deficient mouse
Categories
Funding
- Rare Diseases Clinical Research Consortia (USA) [5 U54 RR019478-05]
- RDCRN postdoctoral trainee award [R01AR050236]
- California Regenerative Medicine Predoctoral Fellowship [TI-00008]
- National Institute of Health (USA) [NS21328, NS41850, AG13154, AG24373, AG16573]
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Angelman syndrome (AS) is a severe neurological disorder caused by a deficiency of ubiquitin protein ligase E3A (UBE3A), but the pathophysiology of the disease remains unknown. We now report that in the brains of AS mice in which the maternal UBE3A allele is mutated (m-) and the paternal allele is potentially inactivated by imprinting (p+) (UBE3A m-\p+), the mitochondria are abnormal and exhibit a partial oxidative phosphorylation (OXPHOS) defect. Electron microscopy of the hippocampal region of the UBE3A m-\p+ mice (n=6) reveals small, dense mitochondria with altered cristae, relative to wild-type littermates (n=6) and reduced synaptic vesicle density. The specific activity of OXPHOS complex III is reduced in whole brain mitochondria in UBE3A m-\p+ (n=5) mice versus wild-type littermates (n=5). Therefore, mitochondrial dysfunction may contribute to the pathophysiology of Angelman syndrome. (C) 2009 Elsevier Ireland Ltd. All rights reserved.
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