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1 From the School of Neurosciences and Psychiatry, University of Newcastle-upon-Tyne; and 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle-upon-Tyne, United Kingdom.
PURPOSE. To evaluate somatic mitochondrial (mt)DNA mutations in the macula during ageing.
METHODS. Ten 30-µm cryostat sections from the macula (foveal and perifoveal regions) and peripheral retina of 14 donors (aged 1494 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 oxidasedeficient 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 oxidasedeficient cones in the foveal region than elsewhere.
CONCLUSIONS. The results show that mitochondrial DNA deletions and cytochrome c oxidasedeficient 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 maculopathy.
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