April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Association Between Mitochondrial DNA Haplogroups and Age-Related Macular Degeneration
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:https://doi.org/
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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. doi: https://doi.org/.

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

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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 
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