Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis
Open accessAbstract
TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP). Amyotrophic lateral sclerosis (ALS), like FTLD-TDP, is characterized by pathological TDP-43 inclusions. We therefore investigated whether FTLD-TDP-associated risk genotypes at TMEM106B (1) contribute to risk of developing ALS or (2) modify the clinical presentation in ALS. Detailed clinical and pathological information from 61 postmortem ALS patients was collected by database query, retrospective chart review, and histopathological slide review. DNA from these patients, as well as 24 additional ALS patients, was genotyped for three TMEM106B single nucleotide polymorphisms known to confer increased risk of FTLD-TDP. Associations between TMEM106B genotype and ALS were investigated by comparing TMEM106B genotypes in ALS patients (n = 85) and normal controls (n = 553), and associations between TMEM106B genotype and clinical and pathologic features were explored using linear regression. Multivariate linear models were used to evaluate the contributions of TMEM106B genotype and TDP-43 pathology to cognitive performance in ALS as measured by a phonemic verbal fluency test. We found that TMEM106B genotypes did not differ between ALS patients and normal controls. However, protective alleles at TMEM106B were significantly associated with preserved cognition in ALS patients, with the strongest association seen under a major-allele-dominant genetic model. While lower TDP-43 pathology scores and protective alleles at TMEM106B both correlated with better cognitive scores, these factors were not correlated with each other and demonstrated independent effects. These findings implicate the FTLD-TDP risk gene TMEM106B in the development of cognitive impairment in ALS.
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GRN and TMEM106B are reportedly potential genetic risk factors for differential aging in the cerebral cortex and cognitive impairment in amyotrophic lateral sclerosis and Parkinson's disease.
“For instance, GRN and TMEM106B are reportedly potential genetic risk factors for differential aging in the cerebral cortex42 and cognitive impairment in amyotrophic lateral sclerosis43 and Parkinson’s disease44,45.”
From New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) · cites this paper as [43]
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Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice
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The Lysosomal Trafficking Transmembrane Protein 106B Is Linked to Cell Death
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Temporal course of cognitive and behavioural changes in motor neuron diseases
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TMEM106a is a Novel Tumor Suppressor in Human Renal Cancer
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TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis
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Transmembrane protein 106C promotes the development of hepatocellular carcinoma
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- Authors
- Vass, R., Ashbridge, E., Geser, F., Hu, W. T., Grossman, M., Clay-Falcone, D., Elman, L., McCluskey, L., Lee, V. M. Y., Van Deerlin, V. M., Trojanowski, J. Q., & Chen-Plotkin, A. S.
- Affiliations
- University of Pennsylvania (US)
- Emory University (US)
- Venue
- Acta Neuropathologica
- Published
- 2010-11-23
- Volume
- 121
- Issue
- 3
- Pages
- 373-380
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC3095217
- OpenAlex
- W2122280937
- Cited by
- 119
- References
- 32
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 8 · 2023: 8 · 2022: 11 · 2021: 6 · 2020: 8 · 2019: 5 · 2018: 8 · 2017: 5 · 2016: 7 · 2015: 8 · 2014: 14 · 2013: 6 · 2012: 6
- FWCI
- 3.43
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of Pennsylvania
- National Institute on Aging (AG033101, AG-32953, P30AG010124, P01AG017586, AG17586, AG-10124, K08AG033101, P01AG032953)
- National Institute of Neurological Disorders and Stroke (NS-44266, R01NS044266)
- 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
- TMEM106B, amyotrophic lateral sclerosis, cognitive impairment, TDP-43 pathology, frontotemporal lobar degeneration, single nucleotide polymorphisms, genetic risk factors, phonemic fluency, postmortem neuropathology
- MeSH terms
- Adult, Aged, Amyotrophic Lateral Sclerosis, Autopsy, Cognition Disorders, Female, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Nerve Tissue Proteins, Retrospective Studies, Risk Factors, Comorbidity, Linear Models, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Frontotemporal Lobar Degeneration
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