Demyelinating polyneuropathy in goats lacking prion protein.
Skedsmo, Fredrik Strebel; Malachin, Giulia; Våge, Dag Inge; Hammervold, Mie Marie; Salvesen, Øyvind; Ersdal, Cecilie; Ranheim, Birgit; Stafsnes, Marit Hallvardsdotter; Bartosova, Zdenka; Bruheim, Per; Jäderlund, Karin Hultin; Matiasek, Kaspar; Espenes, Arild; Tranulis, Michael A.
Peer reviewed, Journal article
Published version
Permanent lenke
https://hdl.handle.net/11250/2680215Utgivelsesdato
2019Metadata
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Originalversjon
10.1096/fj.201902588RSammendrag
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 vacu-
olated fibers, shrunken axons, and onion bulbs. Peripheral nerve lipid composition
was similar in young goats with or without PrPC , but markedly different between cor-
responding 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.