May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Cytoskeleton Associated ARMS2 in Age-Related Macular Degeneration
Author Affiliations & Notes
  • G. Wang
    Miami Institute for Human Genomics, Univ of Miami Miller Sch of Med, Miami, Florida
  • W. K. Scott
    Miami Institute for Human Genomics, Univ of Miami Miller Sch of Med, Miami, Florida
  • J. L. Haines
    Center for Human Genetic Research, Vanderbilt University, Nashville, Tennessee
  • M. A. Pericak-Vance
    Miami Institute for Human Genomics, Univ of Miami Miller Sch of Med, Miami, Florida
  • Footnotes
    Commercial Relationships  G. Wang, None; W.K. Scott, None; J.L. Haines, None; M.A. Pericak-Vance, None.
  • Footnotes
    Support  NIH Grant U10 EY012118-06
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2660. doi:https://doi.org/
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    • Get Citation

      G. Wang, W. K. Scott, J. L. Haines, M. A. Pericak-Vance; Cytoskeleton Associated ARMS2 in Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2660. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : Age-related macular degeneration (AMD) is the main cause of visual impairment and blindness in developed countries. Genetic variations in the ARMS2 gene at the 10q26 locus have been consistently shown to contribute to AMD risk. However, the mechanism by which ARMS2 influences development of AMD remains to be elucidated. Recently, ARMS2 was reported to localize within mitochondria, suggesting its function may be involved in mitochondria mediated energy metabolism, oxidative stress and apoptosis. This study is designed to explore the detailed function of ARMS2.

Methods: : We developed antibodies specifically targeting the human ARMS2 N-terminus and C-terminus for immunostaining of ARPE-19 cells. We also expressed ARMS2 in COS7 cells.

Results: : We found that endogenous ARMS2 localizes to the perinuclear region in retina epithelial ARPE-19 cells. There was little evidence of ARMS2 co-localization with mitochondria stained with mitoTracker. In the present experiment, ARMS2 associated almost completely with the cytoskeleton. This finding was further confirmed by immunostaining exogenous ARMS2 using anti-His tag and anti-V5-tag antibodies in COS7 cells. Additionally, ARMS2 was found to lack any known mitochondrial targeting motifs.

Conclusions: : We suggest that ARMS2 is associated with the cytoskeleton and that genetic variation in ARMS2 may influence risk of AMD through impairment of cytoskeleton rearrangement.

Keywords: age-related macular degeneration • cytoskeleton • mitochondria 
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