Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling
Open accessAbstract
The most common cause of the neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia is a hexanucleotide repeat expansion in C9orf72. Here we report a study of the C9orf72 protein by examining the consequences of loss of C9orf72 functions. Deletion of one or both alleles of the C9orf72 gene in mice causes age-dependent lethality phenotypes. We demonstrate that C9orf72 regulates nutrient sensing as the loss of C9orf72 decreases phosphorylation of the mTOR substrate S6K1. The transcription factor EB (TFEB), a master regulator of lysosomal and autophagy genes, which is negatively regulated by mTOR, is substantially up-regulated in C9orf72 loss-of-function animal and cellular models. Consistent with reduced mTOR activity and increased TFEB levels, loss of C9orf72 enhances autophagic flux, suggesting that C9orf72 is a negative regulator of autophagy. We identified a protein complex consisting of C9orf72 and SMCR8, both of which are homologous to DENN-like proteins. The depletion of C9orf72 or SMCR8 leads to significant down-regulation of each other's protein level. Loss of SMCR8 alters mTOR signaling and autophagy. These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases.
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c9orf72 knockout in mouse enhances autophagy by de-repressing MTOR and increasing TFEB nuclear translocation.
“Paradoxically, however, c9orf72 knockout in mouse (which models the loss of function attributed to the hexanucleotide repeat expansion) enhances autophagy by de-repressing MTOR and, in turn, increasing TFEB nuclear translocation [179,180].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [180]
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Self-citation
- Authors
- Ugolino, J., Ji, Y. J., Conchina, K., Chu, J., Nirujogi, R. S., Pandey, A., Brady, N. R., Hamacher-Brady, A., & Wang, J.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Wang, Jiou
- Venue
- PLOS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2016-11-22
- Volume
- 12
- Issue
- 11
- Pages
- e1006443
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC5119725
- OpenAlex
- W2555959842
- Cited by
- 185
- References
- 60
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 16 · 2023: 15 · 2022: 11 · 2021: 29 · 2020: 37 · 2019: 22 · 2018: 22 · 2017: 18
- FWCI
- 19.36
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Funders
- National Institutes of Health (NS074324, NS089616)
- The Robert Packard Center for ALS Research at Johns Hopkins
- National Cancer Institute (5T32CA009110)
- Maryland Technology Development Corporation (15075235)
- U.S. Department of Defense (US) (W81XWH-15-1-0069)
- Topics
- Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Keywords
- C9orf72, SMCR8, autophagy, mTOR signaling, TFEB, S6K1 phosphorylation, nutrient sensing, amyotrophic lateral sclerosis, frontotemporal dementia, hexanucleotide repeat expansion, lysosomal function, protein complexes, metabolic regulation
- MeSH terms
- C9orf72 Protein, Alleles, Amyotrophic Lateral Sclerosis, Animals, Autophagy, Carrier Proteins, Gene Expression Regulation, Humans, Phenotype, Signal Transduction, Guanine Nucleotide Exchange Factors, Ribosomal Protein S6 Kinases, 90-kDa, DNA Repeat Expansion, Mice, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Frontotemporal Dementia, TOR Serine-Threonine Kinases
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