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Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
Open accessAbstract
Frontotemporal lobar degeneration is a fatal neurodegenerative disease that results in progressive decline in behavior, executive function and sometimes language. Disease mechanisms remain poorly understood. Recently, however, the DNA- and RNA-binding protein TDP-43 has been identified as the major protein present in the hallmark inclusion bodies of frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD-U), suggesting a role for transcriptional dysregulation in FTLD-U pathophysiology. Using the Affymetrix U133A microarray platform, we profiled global gene expression in both histopathologically affected and unaffected areas of human FTLD-U brains. We then characterized differential gene expression with biological pathway analyses, cluster and principal component analyses, and subgroup analyses based on brain region and progranulin (GRN) gene status. Comparing 17 FTLD-U brains to 11 controls, we identified 414 upregulated and 210 downregulated genes in frontal cortex (P-value < 0.001). Moreover, cluster and principal component analyses revealed that samples with mutations or possibly pathogenic variations in the GRN gene (GRN+, 7/17) had an expression signature that was distinct from both normal controls and FTLD-U samples lacking GRN gene variations (GRN-, 10/17). Within the subgroup of GRN+ FTLD-U, we found >1300 dysregulated genes in frontal cortex (P-value < 0.001), many participating in pathways uniquely dysregulated in the GRN+ cases. Our findings demonstrate a distinct molecular phenotype for GRN+ FTLD-U, not readily apparent on clinical or histopathological examination, suggesting distinct pathophysiological mechanisms for GRN+ and GRN- subtypes of FTLD-U. In addition, these data from a large number of human brains provide a valuable resource for future testing of disease hypotheses.
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“In FTD, two studies re-analysed published transcriptome data139 to discover a role for WNT signalling in GRN-mediated FTD153,154.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [139]
In the citing paper
“In FTD, transcriptional signatures related to differential regional vulnerability have helped to identify modulators of neurodegeneration.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [139]
In the citing paper
“The second study139 compared post-mortem tissue from patients with FTD harbouring dominant mutations in the pro-granulin (GRN) gene, patients who had FTD but who did not have a known family history or mutations, and control individuals. This study also leveraged regional vulnerability by comparing transcriptome profiles in the frontal cortex, hippocampus and cerebellum, identifying a diminishing”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [139]
In the citing paper
“The findings demonstrated that GRN-positive individuals were a transcriptomically distinct group from those with sporadic FTD139.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [139]
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Metadata
- Authors
- Chen-Plotkin, A. S., Geser, F., Plotkin, J. B., Clark, C. M., Kwong, L. K., Yuan, W., Grossman, M., Van Deerlin, V. M., Trojanowski, J. Q., & Lee, V. M.-Y.
- Affiliations
- University of Pennsylvania (US)
- Corresponding author
- Lee, Virginia M.-Y.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-01-25
- Volume
- 17
- Issue
- 10
- Pages
- 1349-1362
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2900863
- OpenAlex
- W2145817301
- Cited by
- 135
- References
- 65
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 9 · 2023: 16 · 2022: 8 · 2021: 8 · 2020: 6 · 2019: 6 · 2018: 16 · 2017: 8 · 2016: 4 · 2015: 1 · 2014: 11 · 2013: 5 · 2012: 8
- FWCI
- 5.30
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Pennsylvania
- National Institute on Aging (AG15116, AG-19724, P30AG010124, R01AG015116, P01AG017586, AG17586, AG-10124, AG023501, P01AG019724, P50AG023501)
- National Institute of Neurological Disorders and Stroke (NS-44266, R01NS044266)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- frontotemporal lobar degeneration, progranulin gene, GRN mutations, TDP-43, FTLD-U, gene expression profiling, transcriptional dysregulation, frontal cortex, molecular phenotypes, neurodegeneration, pathophysiology
- MeSH terms
- Progranulins, Aged, Brain, Dementia, Female, Gene Expression Regulation, Humans, Male, Middle Aged, Mutation, Genetic Variation, Signal Transduction, Cluster Analysis, Case-Control Studies, Neurodegenerative Diseases, Reverse Transcriptase Polymerase Chain Reaction, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, Intercellular Signaling Peptides and Proteins
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