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