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. 2020 Feb;34(2):2359-2375.
doi: 10.1096/fj.201902588R. Epub 2019 Dec 13.

Demyelinating polyneuropathy in goats lacking prion protein

Fredrik S Skedsmo  1 , Giulia Malachin  2 , Dag Inge Våge  3 , Mie Marie Hammervold  3 , Øyvind Salvesen  4 , Cecilie Ersdal  4 , Birgit Ranheim  4 , Marit H Stafsnes  5 , Zdenka Bartosova  5 , Per Bruheim  5 , Karin H Jäderlund  1 , Kaspar Matiasek  6 , Arild Espenes  2 , Michael A Tranulis  2
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Demyelinating polyneuropathy in goats lacking prion protein

Fredrik S Skedsmo et al. FASEB J. 2020 Feb.

Abstract

Studies in mice with ablation of Prnp, the gene that encodes the cellular prion protein (PrPC ), have led to the hypothesis that PrPC is important for peripheral nerve myelin maintenance. Here, we have used a nontransgenic animal model to put this idea to the test; namely, goats that, due to a naturally occurring nonsense mutation, lack PrPC . Teased nerve fiber preparation revealed a demyelinating pathology in goats without PrPC . Affected nerves were invaded by macrophages and T cells and displayed vacuolated fibers, shrunken axons, and onion bulbs. Peripheral nerve lipid composition was similar in young goats with or without PrPC , but markedly different between corresponding groups of adult goats, reflecting the progressive nature of the neuropathy. This is the first report of a subclinical demyelinating polyneuropathy caused by loss of PrPC function in a nontransgenic mammal.

Keywords: PRNP haplotype; lipidomic; myelin; neuropathy.

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