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A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting

Fazeli, Elnaz, Child, Daniel D., Bucks, Stephanie A., Stovarsky, Miki, Edwards, Gabrielle, Rose, Shannon E., Yu, Chang-En, Latimer, Caitlin, Kitago, Yu, Bird, Thomas, Jayadev, Suman, Andersen, Olav M., Young, Jessica E.·2024·Acta Neuropathologica
DOI 10.1007/s00401-023-02670-1PMC PMC10799806
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Abstract

The SORL1 gene has recently emerged as a strong Alzheimer’s Disease (AD) risk gene. Over 500 different variants have been identified in the gene and the contribution of individual variants to AD development and progression is still largely unknown. Here, we describe a family consisting of 2 parents and 5 offspring. Both parents were affected with dementia and one had confirmed AD pathology with an age of onset > 75 years. All offspring were affected with AD with ages at onset ranging from 53 years to 74 years. DNA was available from the parent with confirmed AD and 5 offspring. We identified a coding variant, p.(Arg953Cys), in SORL1 in 5 of 6 individuals affected by AD. Notably, variant carriers had severe AD pathology, and the SORL1 variant segregated with TDP-43 pathology (LATE-NC). We further characterized this variant and show that this Arginine substitution occurs at a critical position in the YWTD-domain of the SORL1 translation product, SORL1. Functional studies further show that the p.R953C variant leads to retention of the SORL1 protein in the endoplasmic reticulum which leads to decreased maturation and shedding of the receptor and prevents its normal endosomal trafficking. Together, our analysis suggests that p.R953C is a pathogenic variant of SORL1 and sheds light on mechanisms of how missense SORL1 variants may lead to AD.

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  • Some SORLA variants such as the dimerization-deficient Y1816C or R953C may be linked to dominant causality in AD.

    “growing evidence suggests that some SORLA variants such as the dimerization-deficient Y1816C (Jensen, Raska et al. 2024) or R953C (Fazeli, Child et al. 2024) may be linked to dominant causality in AD (Scheltens, De Strooper et al. 2021).”

    From SORLA up-regulation suppresses pathological effects in aged tauopathy mouse brain (2026) · cites this paper as Fazeli, Child et al. 2024

    The Discussion reports genetic and functional evidence supporting R953C pathogenicity: all five affected offspring carried the variant. It does not establish dominant causality in this family; the affected mother lacked R953C, and the father’s genotype was unavailable. (LLM, conf=0.84)

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Cited by

Sorted by citations

Metadata

Authors
Fazeli, E., Child, D. D., Bucks, S. A., Stovarsky, M., Edwards, G., Rose, S. E., Yu, C.-E., Latimer, C., Kitago, Y., Bird, T., Jayadev, S., Andersen, O. M., & Young, J. E.
ORCID
Young, Jessica E.
Venue
Acta Neuropathologica
Publisher
Springer Science and Business Media LLC
Published
2024-01-20
Volume
147
Issue
1
ISSN
  • 0001-6322
  • 1432-0533
DOI
10.1007/s00401-023-02670-1
PMC
PMC10799806
Cited by
29
References
5
Language
en
Licence
Funders
  • National Institute on Aging (AG062148, AG059841, AG052354-06A1, AG05136)
  • Alzheimer's Association (23AARG1022491, ADSF-21-831378-C)
  • Novo Nordisk (NNF20OC0064162)

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