Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21.1-p12. We investigated 13 families with IBMPFD linked to chromosome 9 using a candidate-gene approach. We found six missense mutations in the gene encoding valosin-containing protein (VCP, a member of the AAA-ATPase superfamily) exclusively in all 61 affected individuals. Haplotype analysis indicated that descent from two founders in two separate North American kindreds accounted for IBMPFD in approximately 50% of affected families. VCP is associated with a variety of cellular activities, including cell cycle control, membrane fusion and the ubiquitin-proteasome degradation pathway. Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway.
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p97/VCP mutation is directly linked to human neuromuscular diseases like Inclusion Body Myopathy, Frontotemporal dementia, and Amyotrophic Lateral Sclerosis.
“The relevance of mitochondrial retrotranslocation mechanism in quality control has been demonstrated by the direct link between p97/VCP mutation and human neuromuscular diseases, like Inclusion Body Myopathy, Frontotemporal dementia and Amyotrophic Lateral Sclerosis [171, 172].”
From The connection between the dynamic remodeling of the mitochondrial network and the regulation of muscle mass (2021) · cites this paper as [171]
Mutations in VCP most commonly lead to the combined disorder of inclusion body myopathy, Paget disease of the bone, and FTD (IBMPFD).
“Mutations in VCP most commonly lead to the combined disorder of inclusion body myopathy, Paget disease of the bone, and FTD (IBMPFD) [240]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [240]
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“…inclusion body myopathy associated with Paget’s disease of the bone and frontotemporal dementia with valosincontaining protein (VCP) mutation (Watts et al., 2004), GNE myopathy (Li et al., 2013) and collagen VI muscular dystrophy (Grumati et al., 2010), we also investigated morphologically…”
BackgroundRoles of VCP in human neurodegenerative disorders
Kakizuka, A. (2008) · Biochemical Society Transactions · doi:10.1042/bst0360105 · Cited by 64 · see citing works
Dopper, E. G. P., Chalos, V., Ghariq, E., den Heijer, T., Hafkemeijer, A., Jiskoot, L. C., de Koning, I., Seelaar, H., van Minkelen, R., van Osch, M. J. P., et al. (2016) · NeuroImage: Clinical · doi:10.1016/j.nicl.2016.08.001 · Cited by 57 · see citing works
Recent progress in the role of autophagy in neurological diseases
Meng, T., Lin, S., Zhuang, H., Huang, H., He, Z., Hu, Y., Gong, Q., & Feng, D. (2019) · Cell Stress · doi:10.15698/cst2019.05.186 · Cited by 58 · see citing works
Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS
DeJesus-Hernandez, M., Desaro, P., Johnston, A., Ross, O. A., Wszolek, Z. K., Ertekin-Taner, N., Graff-Radford, N. R., Rademakers, R., & Boylan, K. (2011) · Neurology · doi:10.1212/wnl.0b013e31822e563c · Cited by 55 · see citing works
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.07.024 · Cited by 51 · see citing works
Kustermann, M., Manta, L., Paone, C., Kustermann, J., Lausser, L., Wiesner, C., Eichinger, L., Clemen, C. S., Schröder, R., Kestler, H. A., et al. (2018) · Autophagy · doi:10.1080/15548627.2018.1491491 · Cited by 45 · see citing works
Gossye, H., Van Broeckhoven, C., & Engelborghs, S. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00757 · Cited by 34 · see citing works
Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease
Nalbandian, A., Nguyen, C., Katheria, V., Llewellyn, K. J., Badadani, M., Caiozzo, V., & Kimonis, V. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076187 · Cited by 30 · see citing works
Self-citation
- Authors
- Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E.
- Affiliations
- Boston Children's Hospital (US)
- University of Tennessee at Chattanooga (US)
- Barnes-Jewish Hospital (US)
- Washington University in St. Louis (US)
- Corresponding author
- Kimonis, Virginia E
- Venue
- Nature Genetics
- Published
- 2004-03-21
- Volume
- 36
- Issue
- 4
- Pages
- 377-381
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2056607803
- Cited by
- 1,391
- References
- 28
- Citations by year
- 2026: 20 · 2025: 35 · 2024: 46 · 2023: 57 · 2022: 52 · 2021: 68 · 2020: 74 · 2019: 52 · 2018: 54 · 2017: 72 · 2016: 82 · 2015: 79 · 2014: 81 · 2013: 81 · 2012: 91
- FWCI
- 17.93
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- UEA Digital Repository (University of East Anglia) (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- Muscular Dystrophy Association
- Foundation for Barnes-Jewish Hospital
- Shriners Hospitals for Children
- National Institutes of Health
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- VCP, missense mutations, AAA+ ATPase, founder mutation, haplotype analysis, ubiquitin-proteasome system, inclusion body disease
- MeSH terms
- Valosin Containing Protein, Adenosine Triphosphatases, Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Humans, Immunohistochemistry, Male, Muscular Diseases, Mutation, Osteitis Deformans, Pedigree, Cell Cycle Proteins
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