Hypothesis: functional age and onset of autosomal dominant genetic prion disease.
Aging
Disease
Mouse model
Mutation
Pathogenic
Prion
Journal
Theory in biosciences = Theorie in den Biowissenschaften
ISSN: 1611-7530
Titre abrégé: Theory Biosci
Pays: Germany
ID NLM: 9708216
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
30
06
2022
accepted:
10
03
2023
medline:
26
5
2023
pubmed:
6
4
2023
entrez:
5
4
2023
Statut:
ppublish
Résumé
Autosomal dominant diseases typically have an age-related onset. Here, I focus on genetic prion disease (gPrD), caused by various mutations in the PRNP gene. While gPrD typically occurs at or after middle age, there can be considerable variability in the specific age of onset. This variability can occur among patients with the same PRNP mutation; in some cases, these differences occur not only between families but even within the same family. It is not known why gPrD onset is typically delayed for decades when the causative mutation is present from birth. Mouse models of gPrD manifest disease; however, unlike human gPrD, which typically takes decades to manifest, mouse models exhibit disease within months. Therefore, the time to onset of prion disease is proportional to species lifespan; however, it is not known why this is the case. I hypothesize that the initiation of gPrD is strongly influenced by the process of aging; therefore, disease onset is related to proportional functional age (e.g., mice vs. humans). I propose approaches to test this hypothesis and discuss its significance with respect to delaying prion disease through suppression of aging.
Identifiants
pubmed: 37017882
doi: 10.1007/s12064-023-00389-x
pii: 10.1007/s12064-023-00389-x
doi:
Substances chimiques
Prions
0
Prion Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
143-150Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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