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A genetically modified minipig model for Alzheimer’s disease with SORL1 haploinsufficiency

Andersen, Olav M., Bøgh, Nikolaj, Landau, Anne M., Pløen, Gro G., Jensen, Anne Mette G., Monti, Giulia, Ulhøi, Benedicte P., Nyengaard, Jens R., Jacobsen, Kirsten R., Jørgensen, Margarita M., Holm, Ida E., Kristensen, Marianne L., Alstrup, Aage Kristian O., Hansen, Esben S.S., Teunissen, Charlotte E., Breidenbach, Laura, Droescher, Mathias, Liu, Ying, Pedersen, Hanne S., Callesen, Henrik, Luo, Yonglun, Bolund, Lars, Brooks, David J., Laustsen, Christoffer, Small, Scott A., Mikkelsen, Lars F., Sørensen, Charlotte B.·2022·Cell Reports Medicine
DOI 10.1016/j.xcrm.2022.100740PMC PMC9512670

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  • Loss of SORLA causes endo-lysosomal defects in neurons, including in endosomal recycling, autophagy, and lysosome function, resulting in increased secretion of toxic Aβ species and impaired synaptic activity.

    “Studies investigating the role of SORLA in ad pathogenesis have extensively focused on neurons and revealed that loss of SORLA causes endo‐lysosomal defects in neurons, specifically in endosomal recycling, autophagy, and lysosome function, ultimately resulting in increased secretion of toxic Aβ species and impaired synaptic activity in neurons (Andersen et al. 2022; Hung et al. 2021; Knupp et al.”

    From The Alzheimer's Disease Gene SORL1 Regulates Lysosome Function in Human Microglia (2025) · cites this paper as Andersen et al. 2022

    The Introduction and Discussion describe SORLA-dependent endosomal recycling and link reduced SORLA activity to increased Aβ production; the Results report enlarged neuronal endosomes in SORL1-deficient minipigs. Our copy does not establish defects in autophagy or lysosome function or characterize the increased Aβ as toxic. In the Results section on 21-month-old minipigs, the authors report no decrease in a PET measure of neuronal synaptic activity, while cautioning that few animals were studied. (LLM, conf=0.90)

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Metadata

Authors
Andersen, O. M., Bøgh, N., Landau, A. M., Pløen, G. G., Jensen, A. M. G., Monti, G., Ulhøi, B. P., Nyengaard, J. R., Jacobsen, K. R., Jørgensen, M. M., Holm, I. E., Kristensen, M. L., Alstrup, A. K. O., Hansen, E. S. S., Teunissen, C. E., Breidenbach, L., Droescher, M., Liu, Y., Pedersen, H. S., Callesen, H., Luo, Y., Bolund, L., Brooks, D. J., Laustsen, C., Small, S. A., Mikkelsen, L. F., & Sørensen, C. B.
Venue
Cell Reports Medicine
Publisher
Elsevier BV
Published
2022-09
Volume
3
Issue
9
Pages
100740
ISSN
2666-3791
DOI
10.1016/j.xcrm.2022.100740
PMC
PMC9512670
Cited by
48
References
11
Language
en
Licence
Funders
  • AbbVie
  • Hjerteforeningen (16-R107-A6813-22997)
  • Cosmetic Surgery Foundation
  • Lundbeckfonden (R100-A9209)

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