Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
A G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG3C2 repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely ex...
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| Published in: | Cell reports (Cambridge) Vol. 31; no. 5; p. 107616 |
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| Abstract | A G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG3C2 repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases result in the degeneration of distinct subsets of neurons. We show that the expression of these repeat expansions in mice is sufficient to recapitulate the unique features of each disease, including this selective neuronal vulnerability. Furthermore, only the G4C2 repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder.
[Display omitted]
•NOP56-(TG3C2)62 and C9orf72-(G4C2)66 repeats confer distinct phenotypes in mice•NOP56-(TG3C2)62 induces cerebellar degeneration akin to SCA36•RNA foci and RAN translation in the SCA36 mice resemble human pathologies•TDP-43 proteinopathy and aberrant stress granules are unique to C9orf72-G4C2
c9FTD/ALS and SCA36 are distinct diseases associated with similar hexanucleotide repeat expansions: G4C2 versus TG3C2. Todd et al. show that expressing these repeats in mice is sufficient to recapitulate each disease. The pathology and selective neurodegeneration characteristic of each disorder are therefore due to pathomechanisms intrinsic to each repeat sequence. |
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| AbstractList | A G
4
C
2
hexanucleotide repeat expansion in an intron of
C9orf72
is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG
3
C
2
repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases result in the degeneration of distinct subsets of neurons. We show that the expression of these repeat expansions in mice is sufficient to recapitulate the unique features of each disease, including this selective neuronal vulnerability. Furthermore, only the G
4
C
2
repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder.
c9FTD/ALS and SCA36 are distinct diseases associated with similar hexanucleotide repeat expansions: G
4
C
2
versus TG
3
C
2
. Todd et al. show that expressing these repeats in mice is sufficient to recapitulate each disease. The pathology and selective neurodegeneration characteristic of each disorder are therefore due to pathomechanisms intrinsic to each repeat sequence. A G C hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG C repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases result in the degeneration of distinct subsets of neurons. We show that the expression of these repeat expansions in mice is sufficient to recapitulate the unique features of each disease, including this selective neuronal vulnerability. Furthermore, only the G C repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder. A G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG3C2 repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases result in the degeneration of distinct subsets of neurons. We show that the expression of these repeat expansions in mice is sufficient to recapitulate the unique features of each disease, including this selective neuronal vulnerability. Furthermore, only the G4C2 repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder. [Display omitted] •NOP56-(TG3C2)62 and C9orf72-(G4C2)66 repeats confer distinct phenotypes in mice•NOP56-(TG3C2)62 induces cerebellar degeneration akin to SCA36•RNA foci and RAN translation in the SCA36 mice resemble human pathologies•TDP-43 proteinopathy and aberrant stress granules are unique to C9orf72-G4C2 c9FTD/ALS and SCA36 are distinct diseases associated with similar hexanucleotide repeat expansions: G4C2 versus TG3C2. Todd et al. show that expressing these repeats in mice is sufficient to recapitulate each disease. The pathology and selective neurodegeneration characteristic of each disorder are therefore due to pathomechanisms intrinsic to each repeat sequence. A G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG3C2 repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases result in the degeneration of distinct subsets of neurons. We show that the expression of these repeat expansions in mice is sufficient to recapitulate the unique features of each disease, including this selective neuronal vulnerability. Furthermore, only the G4C2 repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder. |
| ArticleNumber | 107616 |
| Author | Sobrido, María-Jesús McEachin, Zachary T. Yue, Mei Kurti, Aishe Disney, Matthew D. Arias, Manuel Dickson, Dennis Gendron, Tania F. Song, Yuping Dunmore, Judith H. Teijeira Bautista, Susana Petrucelli, Leonard Zhang, Yong-Jie Todd, Tiffany W. Jansen-West, Karen Bassell, Gary J. Chew, Jeannie Burch, Alexander R. Castanedes-Casey, Monica San Millan, Beatriz Tong, Jimei Fryer, John D. Rossoll, Wilfried |
| AuthorAffiliation | 11 These authors contributed equally 4 Wallace H. Coulter Graduate Program in Biomedical Engineering, Georgia Institute of Technology & Emory University, Atlanta, GA 30332, USA 10 Department of Chemistry, The Scripps Research Institute, Scripps Florida, Jupiter, FL 33458, USA 3 Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA 2 Department of Cell Biology, Emory University, Atlanta, GA 30322, USA 8 Department of Neurology, Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain 9 Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain 12 Lead Contact 1 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA 7 Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain 5 Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain 6 |
| AuthorAffiliation_xml | – name: 7 Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain – name: 2 Department of Cell Biology, Emory University, Atlanta, GA 30322, USA – name: 12 Lead Contact – name: 3 Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA – name: 11 These authors contributed equally – name: 1 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – name: 4 Wallace H. Coulter Graduate Program in Biomedical Engineering, Georgia Institute of Technology & Emory University, Atlanta, GA 30332, USA – name: 8 Department of Neurology, Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain – name: 6 Pathology Department, Complexo Hospitalario Universitario de Vigo (CHUVI), SERGAS, Vigo, Spain – name: 10 Department of Chemistry, The Scripps Research Institute, Scripps Florida, Jupiter, FL 33458, USA – name: 5 Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain – name: 9 Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain |
| Author_xml | – sequence: 1 givenname: Tiffany W. surname: Todd fullname: Todd, Tiffany W. organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 2 givenname: Zachary T. surname: McEachin fullname: McEachin, Zachary T. organization: Department of Cell Biology, Emory University, Atlanta, GA 30322, USA – sequence: 3 givenname: Jeannie surname: Chew fullname: Chew, Jeannie organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 4 givenname: Alexander R. surname: Burch fullname: Burch, Alexander R. organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 5 givenname: Karen surname: Jansen-West fullname: Jansen-West, Karen organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 6 givenname: Jimei surname: Tong fullname: Tong, Jimei organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 7 givenname: Mei surname: Yue fullname: Yue, Mei organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 8 givenname: Yuping surname: Song fullname: Song, Yuping organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 9 givenname: Monica surname: Castanedes-Casey fullname: Castanedes-Casey, Monica organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 10 givenname: Aishe surname: Kurti fullname: Kurti, Aishe organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 11 givenname: Judith H. surname: Dunmore fullname: Dunmore, Judith H. organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 12 givenname: John D. surname: Fryer fullname: Fryer, John D. organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 13 givenname: Yong-Jie surname: Zhang fullname: Zhang, Yong-Jie organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 14 givenname: Beatriz surname: San Millan fullname: San Millan, Beatriz organization: Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain – sequence: 15 givenname: Susana surname: Teijeira Bautista fullname: Teijeira Bautista, Susana organization: Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain – sequence: 16 givenname: Manuel surname: Arias fullname: Arias, Manuel organization: Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain – sequence: 17 givenname: Dennis surname: Dickson fullname: Dickson, Dennis organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 18 givenname: Tania F. surname: Gendron fullname: Gendron, Tania F. organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 19 givenname: María-Jesús surname: Sobrido fullname: Sobrido, María-Jesús organization: Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain – sequence: 20 givenname: Matthew D. surname: Disney fullname: Disney, Matthew D. organization: Department of Chemistry, The Scripps Research Institute, Scripps Florida, Jupiter, FL 33458, USA – sequence: 21 givenname: Gary J. surname: Bassell fullname: Bassell, Gary J. organization: Department of Cell Biology, Emory University, Atlanta, GA 30322, USA – sequence: 22 givenname: Wilfried surname: Rossoll fullname: Rossoll, Wilfried email: rossoll.wilfried@mayo.edu organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 23 givenname: Leonard surname: Petrucelli fullname: Petrucelli, Leonard email: petrucelli.leonard@mayo.edu organization: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA |
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| ContentType | Journal Article |
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| Keywords | mouse RAN translation poly(PR) SCA36 TDP-43 FTD ALS poly(GP) RNA foci C9orf72 |
| Language | English |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 AUTHOR CONTRIBUTIONS T.W.T. carried out experiments and characterized the TG3C2 mice. T.W.T., W.R., and L.P. designed experiments. Z.T.M., M.-J.S., G.J.B., and W.R. coordinated human sample collection. Z.T.M., M.C.-C., and D.D. performed IHC on patient tissues. J.C. characterized the G4C2 mice. K.J.-W. made constructs. J.T. aided in mouse husbandry and harvests. M.Y. and J.H.D. performed intracerebroventricular (i.c.v.) injections. A.K., T.W.T., and J.D.F. performed behavioral analyses. T.W.T. performed cell culture, IF, and FISH. T.F.G. performed MSD immunoassays. Y.-J.Z., T.W.T., M.C.-C., A.R.B., and D.D. performed IHC on mouse tissue. M.-J.S., M.A., B.S.M., and S.T.B. provided patient samples and genetic and clinical data. A.R.B. and Y.S. provided technical support. T.W.T. wrote the manuscript. T.W.T., L.P., W.R., and M.D.D. revised and edited the manuscript. |
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| SubjectTerms | ALS C9orf72 FTD mouse poly(GP) poly(PR) RAN translation RNA foci SCA36 TDP-43 |
| Title | Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo |
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