FUS and TDP43 genetic variability in FTD and CBS
Open accessAbstract
This study aimed to evaluate genetic variability in the FUS and TDP-43 genes, known to be mainly associated with amyotrophic lateral sclerosis (ALS), in patients with the diagnoses of frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS). We screened the DNA of 228 patients for all the exons and flanking introns of FUS and TDP-43 genes. We identified 2 novel heterozygous missense mutations in FUS: P106L (g.22508384C>T) in a patient with behavioral variant frontotemporal dementia (bvFTD) and Q179H in several members of a family with behavioral variant FTD. We also identified the N267S mutation in TDP-43 in a CBS patient, previously only reported in 1 ALS family and 1 FTD patient. Additionally, we identified 2 previously reported heterozygous insertion and deletion mutations in Exon 5 of FUS; Gly174-Gly175 del GG (g. 4180-4185 delGAGGTG) in an FTD patient and Gly175-Gly176 ins GG (g. 4185-4186 insGAGGTG) in a patient with diagnosis of CBS. Not least, we have found a series of variants in FUS also in neurologically normal controls. In summary, we report that genetic variability in FUS and TDP-43 encompasses a wide range of phenotypes (including ALS, FTD, and CBS) and that there is substantial genetic variability in FUS gene in neurologically normal controls.
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The majority of disease-associated FUS mutations affect the C-terminal nuclear localization signal, resulting in cytosolic mislocalization and aggregation of mutant FUS.
“The majority of disease-associated FUS mutations affect the C-terminal nuclear localization signal, resulting in cytosolic mislocalization and aggregation of mutant FUS [232–234].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [233]
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- Authors
- Huey, E. D., Ferrari, R., Moreno, J. H., Jensen, C., Morris, C. M., Potocnik, F., Kalaria, R. N., Tierney, M., Wassermann, E. M., Hardy, J., Grafman, J., & Momeni, P.
- Affiliations
- Columbia University Irving Medical Center (US)
- Texas Tech University (US)
- Newcastle University (GB)
- Stellenbosch University (ZA)
- National Institutes of Health (US)
- Corresponding author
- Momeni, Parastoo
- ORCID
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2012-05
- Volume
- 33
- Issue
- 5
- Pages
- 1016.e9-1016.e17
- ISSN
- 0197-4580 (ISSN-L)
- PMC
- PMC4489700
- OpenAlex
- W2057034125
- Cited by
- 82
- References
- 27
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2 · 2022: 9 · 2021: 10 · 2020: 8 · 2019: 5 · 2018: 3 · 2017: 5 · 2016: 11 · 2015: 10 · 2014: 3 · 2013: 7 · 2012: 6
- FWCI
- 3.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurobiology of Aging (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- SUNScholar (Stellenbosch University) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- South Plains Foundation
- NIH NINDS (5R00NS060766)
- NINDS Intramural Research Program
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- FUS gene, frontotemporal lobar degeneration, corticobasal syndrome, behavioral variant frontotemporal dementia, amyotrophic lateral sclerosis, novel missense mutation, insertion-deletion mutations, genetic variation, familial frontotemporal lobar degeneration
- MeSH terms
- Aged, Basal Ganglia Diseases, DNA-Binding Proteins, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Genetic Variation, Point Mutation, RNA-Binding Protein FUS, TDP-43 Proteinopathies, Frontotemporal Dementia
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