Document Detail

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome.
MedLine Citation:
PMID:  19563863     Owner:  NLM     Status:  MEDLINE    
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.
Hailing Su; Weiwei Fan; Pinar E Coskun; Jouni Vesa; June-Anne Gold; Yong-Hui Jiang; Prasanth Potluri; Vincent Procaccio; Allan Acab; John H Weiss; Douglas C Wallace; Virginia E Kimonis
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural     Date:  2009-06-27
Journal Detail:
Title:  Neuroscience letters     Volume:  487     ISSN:  1872-7972     ISO Abbreviation:  Neurosci. Lett.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-12-20     Completed Date:  2011-11-08     Revised Date:  2014-09-20    
Medline Journal Info:
Nlm Unique ID:  7600130     Medline TA:  Neurosci Lett     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  129-33     Citation Subset:  IM    
Copyright Information:
Copyright © 2009 Elsevier Ireland Ltd. All rights reserved.
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MeSH Terms
Angelman Syndrome / enzymology*,  genetics,  pathology
CA1 Region, Hippocampal / enzymology*,  pathology
Disease Models, Animal*
Mice, Knockout
Mice, Transgenic
Mitochondria / enzymology*,  genetics,  pathology
Neurons / enzymology*,  pathology,  physiology
Purkinje Cells / enzymology,  pathology
Synaptic Vesicles / genetics,  pathology
Ubiquitin-Protein Ligases / biosynthesis,  deficiency*,  genetics
Grant Support
5 U54 RR019478-05/RR/NCRR NIH HHS; AG13154/AG/NIA NIH HHS; AG16573/AG/NIA NIH HHS; AG24373/AG/NIA NIH HHS; M01 RR000827/RR/NCRR NIH HHS; M01 RR000827-337160/RR/NCRR NIH HHS; NS21328/NS/NINDS NIH HHS; NS41850/NS/NINDS NIH HHS; R01 AG013154/AG/NIA NIH HHS; R01 AG013154-11/AG/NIA NIH HHS; R01 AG024373/AG/NIA NIH HHS; R01 AG024373-05/AG/NIA NIH HHS; R01 NS021328/NS/NINDS NIH HHS; R01 NS021328-24/NS/NINDS NIH HHS; R01 NS021328-25/NS/NINDS NIH HHS; R01 NS041850/NS/NINDS NIH HHS; R01 NS041850-06/NS/NINDS NIH HHS; R01AR050236/AR/NIAMS NIH HHS
Reg. No./Substance:
EC protein, mouse; EC Ligases

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