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Martin J. Barron, Margaret A. Johnson, Richard M. Andrews, Michael P. Clarke, Philip G. Griffiths, Elizabeth Bristow, Lang-Ping He, Steven Durham, Douglass M. Turnbull; Mitochondrial Abnormalities in Ageing Macular Photoreceptors. Invest. Ophthalmol. Vis. Sci. 2001;42(12):3016-3022.
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purpose. To evaluate somatic mitochondrial (mt)DNA mutations in the macula
methods. Ten 30-μm cryostat sections from the macula (foveal and perifoveal
regions) and peripheral retina of 14 donors (aged 14–94 years) were
cut for cytochrome c oxidase cytochemistry. The
photoreceptor layer was microdissected and DNA extracted for 4977-bp
mtDNA (mtDNA4977) quantification using PCR. Dual
cytochemistry for cytochrome c oxidase and succinate
dehydrogenase allowed the detection of cytochrome c oxidase–deficient cones.
results. Findings showed a progressive accumulation of mtDNA4977 from ages 14 to 94 years. From ages 14 to 60 years there was an
increase from 0.006% to 0.25%, and from ages 60 to 94 years there was
a steeper increase from 0.25% to 5.39%. Counts of cones in the
dual-reacted preparations showed more cytochrome c oxidase–deficient cones in the foveal region than elsewhere.
conclusions. The results show that mitochondrial DNA deletions and cytochrome c oxidase–deficient cones accumulate in the ageing
retina, particularly in the foveal region. These defects may contribute
to the changes in macular function observed in ageing and age-related
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