Cited by 175Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration MechanismsMultiple Sclerosis Research Studies

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Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

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Lall, Deepti, Baloh, Robert H.·2017·Journal of Clinical Investigation

DOI 10.1172/jci90607PMC PMC5669558

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Abstract

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss of motor neurons and shows clinical, pathological, and genetic overlap with frontotemporal dementia (FTD). Activated microglia are a universal feature of ALS/FTD pathology; however, their role in disease pathogenesis remains incompletely understood. The recent discovery that ORF 72 on chromosome 9 (C9orf72), the gene most commonly mutated in ALS/FTD, has an important role in myeloid cells opened the possibility that altered microglial function plays an active role in disease. This Review highlights the contribution of microglia to ALS/FTD pathogenesis, discusses the connection between autoimmunity and ALS/FTD, and explores the possibility that C9orf72 and other ALS/FTD genes may have a "dual effect" on both neuronal and myeloid cell function that could explain a shared propensity for altered systemic immunity and neurodegeneration.

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
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EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
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Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice
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C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
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Self-citation
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway
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Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease
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C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice
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Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice
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Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models
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Inflammation is genetically implicated in Parkinson’s disease
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IgG Reactivity in the Spinal Cord and Motor Cortex in Amyotrophic Lateral Sclerosis
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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
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Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
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Mutant SOD1G93A microglia are more neurotoxic relative to wild‐type microglia
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Progranulin in neurodegenerative disease
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TDP-43 frontotemporal lobar degeneration and autoimmune disease
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Activated Microglia Initiate Motor Neuron Injury by a Nitric Oxide and Glutamate-Mediated Mechanism
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Genetics ignite focus on microglial inflammation in Alzheimer’s disease
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C1q-induced LRP1B and GPR6 Proteins Expressed Early in Alzheimer Disease Mouse Models, Are Essential for the C1q-mediated Protection against Amyloid-β Neurotoxicity
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There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
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Bone Marrow Chimeric Rats Reveal the Unique Distribution of Resident and Recruited Macrophages in the Contused Rat Spinal Cord
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TREM2 Function in Alzheimer’s Disease and Neurodegeneration
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Increased cytotoxic potential of microglia from ALS‐transgenic mice
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease
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Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects
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Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease
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Deposits of IgG and C3 in the spinal cord and motor cortex of ALS patients
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IL-10 Controls Early Microglial Phenotypes and Disease Onset in ALS Caused by Misfolded Superoxide Dismutase 1
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Visualization of mitotic radial glial lineage cells in the developing rat brain by Cdc2 kinase-phosphorylated vimentin
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Extracellular aggregated Cu/Zn superoxide dismutase activates microglia to give a cytotoxic phenotype
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Progranulin is a chemoattractant for microglia and stimulates their endocytic activity
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“PGRN acts as an inflammatory modulator and facilitates microglial phagocytosis of amyloid-β (A β ) and apoptotic cells (54, 55).”
Background
Amyotrophic Lateral Sclerosis
Appel, S. H. (1986) · Archives of Neurology · doi:10.1001/archneur.1986.00520030026007 · Cited by 105
Developmental Regulation of TREM2 and DAP12 Expression in the Murine CNS: Implications for Nasu-Hakola Disease
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Patterns of serum IgM antibodies to GM1 and GD1a gangliosides in amyotrophic lateral sclerosis
Pestronk, A., Adams, R. N., Cornblath, D. R., Kuncl, R. W., Drachman, D. B., & Clawson, L. (1989) · Annals of Neurology · doi:10.1002/ana.410250118 · Cited by 103
Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture
Miller, Z. A., Sturm, V. E., Camsari, G. B., Karydas, A., Yokoyama, J. S., Grinberg, L. T., Boxer, A. L., Rosen, H. J., Rankin, K. P., Gorno-Tempini, M. L., et al. (2016) · Neurology Neuroimmunology & Neuroinflammation · doi:10.1212/nxi.0000000000000301 · Cited by 100
Mutations in progranulin explain atypical phenotypes with variants in MAPT
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A Double-blind Study of the Effectiveness of Cyclosporine in Amyotrophic Lateral Sclerosis
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Trial of immunosuppression in amyotrophic lateral sclerosis using total lymphoid irradiation
Drachman, D. B., Chaudhry, V., Cornblath, D. R., Kuncl, R. W., Pestronk, A., Clawson, L., Mellits, E. D., Quaskey, S. A., Quinn, T. C., Calkins, A., et al. (1994) · Annals of Neurology · doi:10.1002/ana.410350205 · Cited by 97
Motor neuron disease and plasma cell dyscrasia
Shy, M. E., Rowland, L. P., Smith, T., Trojaborg, W., Latov, N., Sherman, W. H., Pesce, M. A., Lovelace, R. E., & Osserman, E. F. (1986) · Neurology · doi:10.1212/wnl.36.11.1429 · Cited by 94
C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
Rizzu, P., Blauwendraat, C., Heetveld, S., Lynes, E. M., Castillo-Lizardo, M., Dhingra, A., Pyż, E., Hobert, M. A., Synofzik, M., Simón‐Sánchez, J., et al. (2016) · Acta Neuropathologica Communications · doi:10.1186/s40478-016-0306-7 · Cited by 88
LRRK2 in peripheral and central nervous system innate immunity: its link to Parkinson's disease
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In vitro induction of neuronal apoptosis by anti-Fas antibody-containing sera from amyotrophic lateral sclerosis patients
Yi, F., Lautrette, C., Vermot‐Desroches, C., Bordessoule, D., Couratier, P., Wijdenes, J., Preud'homme, J., & Jauberteau, M. (2000) · Journal of Neuroimmunology · doi:10.1016/s0165-5728(00)00288-5 · Cited by 77
Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS
Liu, Q., Shu, S., Wang, R. R., Liu, F., Cui, B., Guo, X. N., Lu, C. X., Li, X. G., Liu, M. S., Peng, B., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000003256 · Cited by 75
Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without <emph type="ital">SOD1</emph> Mutations
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Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72
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Autoimmunity in Amyotrophic Lateral Sclerosis: Past and Present
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Immunoglobulins from amyotrophic lateral sclerosis patients enhance spontaneous transmitter release from motor-nerve terminals.
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Failure of Immunosuppression With a Ten- to 14-Day Course of High-Dose Intravenous Cyclophosphamide to Alter the Progression of Amyotrophic Lateral Sclerosis
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Plasmapheresis in amyotrophic lateral sclerosis
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Increased intracellular calcium triggered by immune mechanisms in amyotrophic lateral sclerosis.
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Highly Immunoreactive IgG Antibodies Directed against a Set of Twenty Human Proteins in the Sera of Patients with Amyotrophic Lateral Sclerosis Identified by Protein Array
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C9orf72’s Interaction with Rab GTPases—Modulation of Membrane Traffic and Autophagy
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Quantitative analysis of monoclonal immunoglobulins in serum of patients with amyotrophic lateral sclerosis
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Plasma exchange in motor neuron disease
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Anti-sulfoglucuronyl paragloboside IgM antibodies in amyotrophic lateral sclerosis
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Gene co-expression analysis unravels a link between C9orf72 and RNA metabolism in myeloid cells
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Microglia in neurodegeneration
Hickman, S., Izzy, S., Sen, P., Morsett, L., & El Khoury, J. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0242-x · Cited by 1,710
Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets
Gao, C., Jiang, J., Tan, Y., & Chen, S. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01588-0 · Cited by 1,616
“The mechanism by which these repeat expansions may cause disease is outlined in three hypotheses: first, downregulation of gene expression (haploinsufficiency) leads to a loss of C9orf72’s normal cellular function; second, the presence of sense and antisense RNA foci could sequester RNA-binding proteins, resulting in…”
Background
Lysosomes as a therapeutic target
Bonam, S. R., Wang, F., & Muller, S. (2019) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0036-1 · Cited by 786
“Indeed, autoantibodies against ganglio side GM1 and GD1a, sulfoglucuronylparagloboside, neurofilament proteins, FAS/CD95 and voltage gated Ca 2+ channels have all been reported in patients with ALS (reviewed elsewhere 125 ) .”
Background
ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D., & Akkari, P. A. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.01310 · Cited by 803
TBK1 Suppresses RIPK1-Driven Apoptosis and Inflammation during Development and in Aging
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“Activated microglia are a universal feature of ALS/FTD pathology (Lall and Baloh, 2017).”

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Authors: Lall, D., & Baloh, R. H.
Affiliations: Regenerative Medicine Institute (MX)
Cedars-Sinai Medical Center (US)
Corresponding author: Baloh, Robert H.
ORCID: Baloh, Robert H.
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2017-07-24
Volume: 127
Issue: 9
Pages: 3250-3258
ISSN: 0021-9738 (ISSN-L)
1558-8238
DOI: 10.1172/jci90607
PMC: PMC5669558
OpenAlex: W2736657964
Cited by: 175
References: 150
Citations by year: 2026: 14 · 2025: 16 · 2024: 11 · 2023: 22 · 2022: 27 · 2021: 16 · 2020: 20 · 2019: 28 · 2018: 16 · 2017: 5
FWCI: 2.50
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Clinical Investigation (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Target ALS
Cedars-Sinai Medical Center
National Institutes of Health
National Institute of Neurological Disorders and Stroke (R01NS097545, R01NS069669)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
Keywords: microglia, C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, neuroinflammation, autoimmunity, myeloid cells, neurodegeneration, pathogenesis, systemic immunity
MeSH terms: Superoxide Dismutase-1, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, DNA-Binding Proteins, Humans, Inflammation, Motor Neurons, Mutation, Phenotype, Proteins, Autoimmunity, Microglia, Disease Progression, Genetic Predisposition to Disease, Myeloid Cells, Mice, Frontotemporal Dementia

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Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

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