Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

Authors: Lin, CS  Sharpley, MS  Fan, W  Waymire, KG  Sadun, AA  Carelli, V  Ross-Cisneros, FN  Baciu, P  Sung, E  McManus, MJ  Pan, BX  Gil, DW  MacGregor, GR  Wallace, DC 
Citation: Lin CS, etal., Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5.
Pubmed: (View Article at PubMed) PMID:23129651
DOI: Full-text: DOI:10.1073/pnas.1217113109

An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria, axonal swelling, and demyelination. Mitochondrial analysis revealed partial complex I and respiration defects and increased reactive oxygen species (ROS) production, whereas synaptosome analysis revealed decreased complex I activity and increased ROS but no diminution of ATP production. Thus, LHON pathophysiology may result from oxidative stress.


Disease Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 8657127
Created: 2014-06-03
Species: All species
Last Modified: 2014-06-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.