SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Open accessAbstract
OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes p62 protein, have been reported in patients with ALS. P62 is a multifunctional adapter protein mainly involved in selective autophagy, oxidative stress response, and cell signaling pathways. The purpose of our study was to evaluate the frequency of SQSTM1 mutations in a dataset of unrelated patients with FTLD or ALS, in comparison with healthy controls and patients with Paget disease of bone (PDB). METHODS: Promoter region and all exons of SQSTM1 were sequenced in a large group of subjects, including patients with FTLD or ALS, healthy controls, and patients with PDB. The clinical characteristics of patients with FTLD or ALS with gene mutations were examined. RESULTS: We identified 6 missense mutations in the coding region of SQSTM1 in patients with either FTLD or ALS, none of which were found in healthy controls or patients with PDB. In silico analysis suggested a pathogenetic role for these mutations. Furthermore, 7 novel noncoding SQSTM1 variants were found in patients with FTLD and patients with ALS, including 4 variations in the promoter region. CONCLUSIONS: SQSTM1 mutations are present in patients with FTLD and patients with ALS. Additional studies are warranted in order to better investigate the role of p62 in the pathogenesis of both FTLD and ALS.
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Mutations detected in the SQSTM1 promoter region are associated with reduced SQSTM1 protein levels in familial ALS-FTD.
“Additionally, mutations detected in the SQSTM1 promoter region are associated with reduced SQSTM1 protein levels in familial ALS-FTD [132,133].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [133]
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- Authors
- Rubino, E., Rainero, I., Chiò, A., Rogaeva, E., Galimberti, D., Fenoglio, P., Grinberg, Y., Isaia, G., Calvo, A., Gentile, S., Bruni, A. C., St. George-Hyslop, P. H., Scarpini, E., Gallone, S., Pinessi, L., Rainero, I., Rubino, E., Gallone, S., Pinessi, L., Ferrero, P., Giordana, M. T., Di Stefano, M., De Martino, P., Govone, F., Vacca, A., Boschi, S., Marrali, G., Negro, E., Restagno, G., & Moglia, C.
- Affiliations
- From Neurology II (E. Rubino, I.R., P.F., S. Gentile, S. Gallone, L.P.) and ALS Expert Center, Neurology IV (A. Chiò, A. Calvo), Department of Neuroscience, and Unit of Geriatrics and Metabolic Bone Disorders (G.I.), Department of Internal Medicine, University of Torino, Torino, Italy; Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine (E. Rogaeva, Y.G., P.H.St.G.-H.), University of Toronto, Toronto, Canada; Department of Neurological Sciences (D.G., E.S.), University...
- University of Toronto (CA)
- Azienda Ospedaliero Universitaria San Giovanni Battista (IT)
- University of Turin (IT)
- AOU S. Giovanni Battista, Torino, Site Investigator
- University of Torino, Site Investigator
- ORCID
- Venue
- Neurology
- Published
- 2012-10-09
- Volume
- 79
- Issue
- 15
- Pages
- 1556-1562
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC3655323
- OpenAlex
- W2063643491
- Cited by
- 286
- References
- 43
- Citations by year
- 2026: 8 · 2025: 11 · 2024: 11 · 2023: 9 · 2022: 9 · 2021: 22 · 2020: 31 · 2019: 22 · 2018: 25 · 2017: 17 · 2016: 27 · 2015: 35 · 2014: 28 · 2013: 27 · 2012: 3
- FWCI
- 19.40
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- Funders
- Howard Hughes Medical Institute
- Pfizer
- Biogen
- Compagnia di San Paolo
- Genome Canada
- Wellcome Trust (081864)
- Alzheimer Society
- European Commission (259867)
- Ministero della Salute (259867)
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Eisai
- Regione Calabria
- Regione Piemonte
- H. Lundbeck A/S
- Canadian Institutes of Health Research
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- p62, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, missense mutations, non-coding variants, promoter polymorphism, selective autophagy, genetic risk factors, Paget's disease of bone, neurodegeneration pathogenesis
- MeSH terms
- Sequestosome-1 Protein, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Brain, Female, Humans, Male, Middle Aged, Promoter Regions, Genetic, Genetic Predisposition to Disease, Mutation, Missense, Adaptor Proteins, Signal Transducing, Frontotemporal Lobar Degeneration
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