April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Association Between Mitochondrial DNA Haplogroups and Age-Related Macular Degeneration
S. Lu; N. Udar; S. R. Atilano; M. Memarzadeh; D. Boyer; B. D. Kuppermann; P. Coskun; D. C. Wallace; A. B. Nesburn; M. C. Kenney
Author Affiliations & Notes
  • S. Lu
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • N. Udar
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • S. R. Atilano
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • M. Memarzadeh
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • D. Boyer
    Retina-vitreous Associates Medical Group, Beverly Hills, California
  • B. D. Kuppermann
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • P. Coskun
    Biological Chemistry,
    University of California, Irvine, Irvine, California
  • D. C. Wallace
    Biological Chemistry,
    University of California, Irvine, Irvine, California
  • A. B. Nesburn
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • M. C. Kenney
    Gavin S. Herbert Eye Institute, Department of Ophthalmology,
    University of California, Irvine, Irvine, California
  • Footnotes
    Commercial Relationships  S. Lu, None; N. Udar, None; S.R. Atilano, None; M. Memarzadeh, None; D. Boyer, None; B.D. Kuppermann, None; P. Coskun, None; D.C. Wallace, None; A.B. Nesburn, None; M.C. Kenney, None.
  • Footnotes
    Support  Supported by Discovery Eye Foundation, Guenther Foundation, Lincy Foundation, Iris and B. Gerald Cantor Foundation, Ko Family Foundation, Gilbert Foundation, Research to Prevent Blindness.
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 2341. doi:
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      S. Lu, N. Udar, S. R. Atilano, M. Memarzadeh, D. Boyer, B. D. Kuppermann, P. Coskun, D. C. Wallace, A. B. Nesburn, M. C. Kenney; Association Between Mitochondrial DNA Haplogroups and Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2341.

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Abstract

Purpose: : To investigate and identify association between specific mtDNA haplogroups and age-related macular degeneration (AMD).

Methods: : Retinas from 10 normal and 11 AMD globes were isolated, DNA was extracted and the mtDNA control region was sequenced. Blood DNA was extracted from 99 AMD and 92 age-matched control subjects. The mtDNA SNP variations that define European haplogroups were characterized by PCR, restriction enzyme digestion and/or sequencing. Analyses were by unpaired t test (two-tailed) using GraphPad Prism or Fisher exact text.

Results: : Analysis of the retinal mtDNA control region SNPs revealed that specific variations correlated with AMD. The A73G SNP, a common mtDNA variation, was found in 91% of AMD retinas (10/11) but in 40% (4/10) of the normal retinas, the T16126C SNP was present in 64% (7/11) of AMD retinas as compared to 20% (2/10) of control retinas and the C16069T SNP was found in 45% (5/11) of AMD retinas versus 10%(1/10) of control retinas. The associations between AMD and specific mtDNA SNPs were confirmed by analysis of blood DNA. The T16126C and C16069T SNPs are commonly associated with mtDNA haplogroups J and the A73G SNP is frequently associated with a subset of haplogroup T.

Conclusions: : There is increased frequency of SNPs related to the J and T mtDNA haplogroups in patient with AMD compared to age matched normal control. This implicates possible mitochondrial alterations in the etiology of AMD.

Keywords: age-related macular degeneration • mitochondria 
© 2009, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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