The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD

GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essentia...

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Published inCell reports (Cambridge) Vol. 43; no. 7; p. 114375
Main Authors Halim, Dilara O., Krishnan, Gopinath, Hass, Evan P., Lee, Soojin, Verma, Mamta, Almeida, Sandra, Gu, Yuanzheng, Kwon, Deborah Y., Fazzio, Thomas G., Gao, Fen-Biao
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 23.07.2024
Elsevier
Subjects
ALS
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
ASO
C9ORF72
C9orf72 Protein - genetics
C9orf72 Protein - metabolism
CP: Cell biology
CP: Neuroscience
DNA Repeat Expansion - genetics
DPR
exocyst
Frontotemporal Dementia - genetics
Frontotemporal Dementia - metabolism
Frontotemporal Dementia - pathology
FTD
Humans
Induced Pluripotent Stem Cells - metabolism
iPSC
Motor Neurons - metabolism
Motor Neurons - pathology
neurodegeneration
neuron
poly(GR)
CP: Cell biology
CP: Neuroscience
exocyst
DPR
FTD
iPSC
ALS
neurodegeneration
neuron
ASO
C9ORF72
poly(GR)
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Abstract GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD. [Display omitted] •The N-terminal fragment of EXOC2 is sufficient to maintain cell viability•Deletion of EXOC2 in C9ORF72-ALS/FTD motor neurons rescues disease phenotypes•EXOC2 ASOs reduce axon degeneration and apoptosis in C9ORF72 motor neurons•Loss of EXOC2 decreases the levels of DPR proteins and expanded G4C2 repeats RNA Halim et al. deleted the gene EXOC2 from patient stem cells and then differentiated them into motor neurons. They found that several amyotrophic lateral sclerosis-related phenotypes were rescued in patient neurons when EXOC2 was deleted or knocked down by a drug. This study identifies EXOC2 as a potential therapeutic target.
AbstractList GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.
GGGGCC (G 4 C 2 ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2 , which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72 -ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G 4 C 2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G 4 C 2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G 4 C 2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72 -ALS/FTD. Halim et al. deleted the gene EXOC2 from patient stem cells and then differentiated them into motor neurons. They found that several amyotrophic lateral sclerosis-related phenotypes were rescued in patient neurons when EXOC2 was deleted or knocked down by a drug. This study identifies EXOC2 as a potential therapeutic target.
GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD. [Display omitted] •The N-terminal fragment of EXOC2 is sufficient to maintain cell viability•Deletion of EXOC2 in C9ORF72-ALS/FTD motor neurons rescues disease phenotypes•EXOC2 ASOs reduce axon degeneration and apoptosis in C9ORF72 motor neurons•Loss of EXOC2 decreases the levels of DPR proteins and expanded G4C2 repeats RNA Halim et al. deleted the gene EXOC2 from patient stem cells and then differentiated them into motor neurons. They found that several amyotrophic lateral sclerosis-related phenotypes were rescued in patient neurons when EXOC2 was deleted or knocked down by a drug. This study identifies EXOC2 as a potential therapeutic target.
GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.
GGGGCC (G C ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G C repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G C repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G C repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.
ArticleNumber 114375
Author Halim, Dilara O.
Krishnan, Gopinath
Lee, Soojin
Almeida, Sandra
Kwon, Deborah Y.
Verma, Mamta
Gu, Yuanzheng
Fazzio, Thomas G.
Hass, Evan P.
Gao, Fen-Biao
AuthorAffiliation 6 Lead contact
4 Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
5 Neuromuscular & Muscle Disorders, Biogen, Cambridge, MA 02142, USA
2 Graduate Program in Neuroscience, Morningside Graduate School of Biomedical Sciences, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
1 Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
3 Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
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– name: 3 Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– name: 4 Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
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Keywords CP: Cell biology
CP: Neuroscience
exocyst
DPR
FTD
iPSC
ALS
neurodegeneration
neuron
ASO
C9ORF72
poly(GR)
Language English
License This is an open access article under the CC BY-NC-ND license.
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AUTHOR CONTRIBUTIONS
Project initiation, F.-B.G. and D.O.H.; conceptualization, F.-B.G. and D.O.H.; investigations, D.O.H., G.K., E.P.H., S.L., M.V., Y.G., and D.Y.K.; formal data analysis, D.O.H., G.K., E.P.H., S.L., S.A., T.G.F., and F.-B.G.; funding acquisition, F.-B.G. and T.G.F.; supervision, F.-B.G.; writing – original draft, D.O.H.; writing – review & editing, F.-B.G., D.O.H., G.K., S.A., S.L., and T.G.F.
ORCID 0000-0001-8873-5404
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SSID ssj0000601194
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Snippet GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this...
GGGGCC (G C ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this...
GGGGCC (G 4 C 2 ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How...
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SourceType Open Website
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StartPage 114375
SubjectTerms ALS
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
ASO
C9ORF72
C9orf72 Protein - genetics
C9orf72 Protein - metabolism
CP: Cell biology
CP: Neuroscience
DNA Repeat Expansion - genetics
DPR
exocyst
Frontotemporal Dementia - genetics
Frontotemporal Dementia - metabolism
Frontotemporal Dementia - pathology
FTD
Humans
Induced Pluripotent Stem Cells - metabolism
iPSC
Motor Neurons - metabolism
Motor Neurons - pathology
neurodegeneration
neuron
poly(GR)
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Title The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD
URI https://dx.doi.org/10.1016/j.celrep.2024.114375
https://www.ncbi.nlm.nih.gov/pubmed/38935506
https://www.proquest.com/docview/3073230191
https://pubmed.ncbi.nlm.nih.gov/PMC11299523
https://doaj.org/article/db2eea12f92c422ea5615950ffbf79b1
Volume 43
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