SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

Rea, Sarah L.; Majcher, Veronika; Searle, Mark S.; Layfield, Rob

doi:10.1016/j.yexcr.2014.01.020

Cited by 152Amyotrophic Lateral Sclerosis ResearchBone Metabolism and DiseasesAlzheimer's disease research and treatments

SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

Rea, Sarah L., Majcher, Veronika, Searle, Mark S., Layfield, Rob·2014·Experimental Cell Research

DOI 10.1016/j.yexcr.2014.01.020

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Abstract

Paget disease of bone (PDB) is a skeletal disorder common in Western Europe but extremely rare in the Indian subcontinent and Far East. The condition has a strong genetic element with mutations affecting the SQSTM1 gene, encoding the p62 protein, frequently identified. Recently SQSTM1 mutations have also been reported in a small number of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), neurodegenerative disorders in which significant coexistence with PDB has not been previously recognized. Although several SQSTM1 mutations are common to both ALS/FTLD and PDB, many are ALS/FTLD-specific. The p62 protein regulates various cellular processes including NF-κB signaling and autophagy pathways. Here we consider how knowledge of the impact of PDB-associated SQSTM1 mutations (several of which are now known to be relevant for ALS/FTLD) on these pathways, as well as the locations of the mutations within the p62 primary sequence, may provide new insights into ALS/FTLD disease mechanisms.

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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 [127]

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Authors: Rea, S. L., Majcher, V., Searle, M. S., & Layfield, R.
Affiliations: The University of Western Australia (AU)
University of Nottingham (GB)
ORCID: Rea, Sarah L.
Searle, Mark S.
Venue: Experimental Cell Research
Publisher: Elsevier BV
Published: 2014-07
Volume: 325
Issue: 1
Pages: 27-37
ISSN: 0014-4827 (ISSN-L)
DOI: 10.1016/j.yexcr.2014.01.020
OpenAlex: W1986369698
Cited by: 152
References: 81
Citations by year: 2026: 5 · 2025: 12 · 2024: 7 · 2023: 5 · 2022: 10 · 2021: 15 · 2020: 25 · 2019: 8 · 2018: 19 · 2017: 12 · 2016: 17 · 2015: 11 · 2014: 6
FWCI: 2.11
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Experimental Cell Research (publishedVersion)
PubMed (publishedVersion)
Murdoch University Research Portal (submittedVersion)
UWA Profiles and Research Repository (UWA) (submittedVersion)
Funders: Biotechnology and Biological Sciences Research Council (BB/I011420/1)
Topics: Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords: p62, Paget's disease of bone, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, genetic mutations, NF-κB signaling, autophagy, neurodegeneration, disease mechanisms
MeSH terms: Sequestosome-1 Protein, Amyotrophic Lateral Sclerosis, Animals, Autophagy, Humans, Osteitis Deformans, Signal Transduction, NF-kappa B, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Frontotemporal Lobar Degeneration

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SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

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