Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
Open accessAbstract
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) and mutations in progranulin (GRN) are the major known genetic causes of FTLD-TDP; however, the genetic etiology in the majority of FTLD-TDP remains unexplained. In this study, we performed whole-genome sequencing in 104 pathologically confirmed FTLD-TDP patients from the Mayo Clinic brain bank negative for C9ORF72 and GRN mutations and report on the contribution of rare single nucleotide and copy number variants in 21 known neurodegenerative disease genes. Interestingly, we identified 5 patients (4.8 %) with variants in optineurin (OPTN) and TANK-binding kinase 1 (TBK1) that are predicted to be highly pathogenic, including two double mutants. Case A was a compound heterozygote for mutations in OPTN, carrying the p.Q235* nonsense and p.A481V missense mutation in trans, while case B carried a deletion of OPTN exons 13-15 (p.Gly538Glufs*27) and a loss-of-function mutation (p.Arg117*) in TBK1. Cases C-E carried heterozygous missense mutations in TBK1, including the p.Glu696Lys mutation which was previously reported in two amyotrophic lateral sclerosis (ALS) patients and is located in the OPTN binding domain. Quantitative mRNA expression and protein analysis in cerebellar tissue showed a striking reduction of OPTN and/or TBK1 expression in 4 out of 5 patients supporting pathogenicity in these specific patients and suggesting a loss-of-function disease mechanism. Importantly, neuropathologic examination showed FTLD-TDP type A in the absence of motor neuron disease in 3 pathogenic mutation carriers. In conclusion, we highlight TBK1 as an important cause of pure FTLD-TDP, identify the first OPTN mutations in FTLD-TDP, and suggest a potential oligogenic basis for at least a subset of FTLD-TDP patients. Our data further add to the growing body of evidence linking ALS and FTD and suggest a key role for the OPTN/TBK1 pathway in these diseases.
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TBK1 mutations occur more frequently in patients with combined ALS-FTD than in those with ALS alone.
“Supporting the link between ALS and FTD, TBK1 mutations have also been identified in FTD patients, and in fact occur more frequently in patients with combined ALS-FTD than in those with ALS alone [207–209].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [209]
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- Authors
- Pottier, C., Bieniek, K. F., Finch, N., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., van Blitterswijk, M., Nicholson, A. M., DeTure, M., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Boylan, K. B., Boeve, B. F., Graff-Radford, N. R., Veltman, J. A., Gilissen, C., Murray, M. E., Dickson, D. W., & Rademakers, R.
- Affiliations
- Mayo Clinic (US)
- Radboud University Nijmegen (NL)
- Corresponding author
- Rademakers, Rosa
- ORCID
- Venue
- Acta Neuropathologica
- Published
- 2015-05-06
- Volume
- 130
- Issue
- 1
- Pages
- 77-92
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC4470809
- OpenAlex
- W239648239
- Cited by
- 312
- References
- 63
- Citations by year
- 2026: 8 · 2025: 21 · 2024: 14 · 2023: 18 · 2022: 16 · 2021: 32 · 2020: 48 · 2019: 32 · 2018: 38 · 2017: 34 · 2016: 37 · 2015: 14
- FWCI
- 28.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- National Institutes of Health (R01 AG037491, R01 NS076471, R01 NS080882, R01 AG026251, P50 AG016574, U01 AG006786)
- 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
- frontotemporal dementia, optineurin, TBK1, loss-of-function mutations, compound heterozygosity, copy number variation, single nucleotide variants, oligogenic inheritance, amyotrophic lateral sclerosis
- MeSH terms
- Aged, Aged, 80 and over, Brain, Female, Humans, Immunohistochemistry, Male, Mutation, RNA, Messenger, Blotting, Western, Cohort Studies, Gene Expression, Motor Neuron Disease, Protein Serine-Threonine Kinases, Sequence Analysis, DNA, Cell Cycle Proteins, Membrane Transport Proteins, Transcription Factor TFIIIA, DNA Copy Number Variations, Frontotemporal Lobar Degeneration
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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