Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization

Charbel Issa P., Barnard AR., Herrmann P., Washington I., MacLaren RE.

Significance Accumulation of lipofuscin in the retinal pigment epithelium precedes retinal degenerations and dystrophies responsible for blindness-causing retinal diseases. The mechanism behind lipofuscin formation in the retina or in any tissue is poorly understood. Here we show in mice that the dimerization of vitamin A is responsible for triggering the formation of more than 50% of ocular lipofuscin. Replacing three hydrogen atoms on vitamin A with deuterium inhibits vitamin A dimerization, resulting in reduced lipofuscin and transcriptional normalization of genes associated with inflammation without compromising retinal function. Thus, vitamin A deuterated at the carbon 20 position provides a clinically amiable tool to prevent vitamin A dimerization in humans to assess whether impeding such dimerization might prevent retinal degenerations such as Stargardt disease and age-related macular degeneration.

DOI

10.1073/pnas.1506960112

Type

Journal article

Publisher

Proceedings of the National Academy of Sciences

Publication Date

2015-07-07T00:00:00+00:00

Volume

112

Pages

8415 - 8420

Total pages

5

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