<emph type="ital">SQSTM1</emph> Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Abstract
BACKGROUND: The SQSTM1 gene encodes p62, a major pathologic protein involved in neurodegeneration. OBJECTIVE: To examine whether SQSTM1 mutations contribute to familial and sporadic amyotrophic lateral sclerosis (ALS). DESIGN: Case-control study. SETTING: Academic research. Patients A cohort of 546 patients with familial (n = 340) or sporadic (n = 206) ALS seen at a major academic referral center were screened for SQSTM1 mutations. MAIN OUTCOME MEASURES: We evaluated the distribution of missense, deletion, silent, and intronic variants in SQSTM1 among our cohort of patients with ALS. In silico analysis of variants was performed to predict alterations in p62 structure and function. RESULTS: We identified 10 novel SQSTM1 mutations (9 heterozygous missense and 1 deletion) in 15 patients (6 with familial ALS and 9 with sporadic ALS). Predictive in silico analysis classified 8 of 9 missense variants as pathogenic. CONCLUSIONS: Using candidate gene identification based on prior biological knowledge and the functional prediction of rare variants, we identified several novel SQSTM1 mutations in patients with ALS. Our findings provide evidence of a direct genetic role for p62 in ALS pathogenesis and suggest that regulation of protein degradation pathways may represent an important therapeutic target in motor neuron degeneration.
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ALS-FTD-associated SQSTM1 mutations frequently affect the UBA and LIR domains involved in autophagy and include both missense and nonsense mutations.
“ALS-FTD-associated SQSTM1 mutations frequently affect the UBA and LIR domains involved in autophagy and include both missense and nonsense mutations [123–125].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [124]
SQSTM1 mutations are a rare cause of ALS-FTD, accounting for ~1-3.5% of cases with or without family history, and also cause Paget's disease of bone and inclusion body myositis.
“SQSTM1 mutations are not only a rare cause of ALS-FTD, accounting for ~1-3.5% of cases with or without family history [123–125], but also Paget’s disease of bone (PDB), a chronic and progressive skeletal disorder characterized by disorganized bone turnover [126,127], and inclusion body myositis (IBM) [128].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [124]
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- Authors
- Fecto, F.
- Affiliations
- Northwestern University (US)
- Corresponding author
- Fecto, Faisal
- ORCID
- Fecto, Faisal
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2011-11-01
- Volume
- 68
- Issue
- 11
- Pages
- 1440
- ISSN
- 0003-9942 (ISSN-L)
- OpenAlex
- W2145697686
- Cited by
- 650
- References
- 40
- Citations by year
- 2026: 22 · 2025: 34 · 2024: 25 · 2023: 36 · 2022: 45 · 2021: 38 · 2020: 79 · 2019: 51 · 2018: 48 · 2017: 53 · 2016: 67 · 2015: 57 · 2014: 35 · 2013: 35 · 2012: 20
- FWCI
- 18.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (T32 AG-20506, T32AG020506)
- National Institute of Neurological Disorders and Stroke (NS050641, R01NS050641)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- p62, amyotrophic lateral sclerosis, familial ALS, sporadic ALS, genetic mutations, missense mutations, protein degradation pathways, motor neuron degeneration, ALS pathogenesis, novel mutations
- MeSH terms
- Sequestosome-1 Protein, Adult, Aged, Amyotrophic Lateral Sclerosis, Female, Humans, Male, Middle Aged, Mutation, Genetic Variation, Cohort Studies, Case-Control Studies, Adaptor Proteins, Signal Transducing
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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