DNA in Cell Cytoplasm Implicated in Age-Related Blindness

A new study suggests that DNA synthesized in the cell cytoplasm drives retinal cell death in an advanced form of age-related macular degeneration, a leading cause of blindness.

Written byKatarina Zimmer
| 5 min read
close-up of a retina showing blood vessels and a damaged spot

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ABOVE: A retina affected by age-related macular degeneration
JAYAKRISHNA AMBATI, UNIVERSITY OF VIRGINIA

In 2011, ophthalmologist Jayakrishna Ambati of the University of Virginia and his colleagues made a curious observation: In the pigmented retinal layers of human eye samples afflicted with an advanced form of age-related macular degeneration (AMD), they discovered high concentrations of Alu transcripts. Alu is a class of transposable elements, DNA bits that jump around the genome through a copy-paste mechanism that occurs in the nucleus. Further studies by the team suggested that the Alu RNA was somehow causing inflammation and cell death, but it was a mystery how.

Earlier this year, Ambati’s team uncovered an important clue. Surprisingly, in cultured human retinal pigmented epithelium cells, they found that DNA copies of Alu can occur in the cell cytoplasm—in the form of complementary DNA (cDNA) made from messenger RNA. In fact, that was the first evidence that human ...

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  • katya katarina zimmer

    After a year teaching an algorithm to differentiate between the echolocation calls of different bat species, Katarina decided she was simply too greedy to focus on one field of science and wanted to write about all of them. Following an internship with The Scientist in 2017, she’s been happily freelancing for a number of publications, covering everything from climate change to oncology. Katarina is a news correspondent for The Scientist and contributes occasional features to the magazine. Find her on Twitter @katarinazimmer and read her work on her website.

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