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The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation

View ORCID ProfileMashiat Zaman, Govinda Sharma, Walaa Almutawa, View ORCID ProfileTyler GB Soule, View ORCID ProfileRasha Sabouny, Matt Joel, View ORCID ProfileArmaan Mohan, Cole Chute, Jeffrey T Joseph, View ORCID ProfileGerald Pfeffer  Correspondence email, View ORCID ProfileTimothy E Shutt  Correspondence email
Mashiat Zaman
1Department of Biochemistry & Molecular Biology, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada
Roles: Conceptualization, Data curation, Formal analysis, Validation, Investigation, Visualization, Methodology, Writing—original draft, Writing—review and editing
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  • ORCID record for Mashiat Zaman
Govinda Sharma
2Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Conceptualization, Formal analysis, Validation, Investigation, Visualization, Methodology
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Walaa Almutawa
2Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing—original draft
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Tyler GB Soule
3Department of Neuroscience, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada
Roles: Investigation, Methodology
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  • ORCID record for Tyler GB Soule
Rasha Sabouny
2Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Investigation, Methodology
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  • ORCID record for Rasha Sabouny
Matt Joel
3Department of Neuroscience, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada
Roles: Data curation, Formal analysis, Investigation
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Armaan Mohan
2Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Investigation, Methodology
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  • ORCID record for Armaan Mohan
Cole Chute
2Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Investigation, Methodology
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Jeffrey T Joseph
4Hotchkiss Brain Institute, Department of Clinical Neurosciences, Department of Pathology, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Data curation, Formal analysis, Investigation
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Gerald Pfeffer
5Hotchkiss Brain Institute, Department of Clinical Neurosciences; and Alberta Child Health Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
Roles: Conceptualization, Data curation, Formal analysis, Supervision, Funding acquisition, Investigation, Writing—original draft, Writing—review and editing
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  • ORCID record for Gerald Pfeffer
  • For correspondence: gerald.pfeffer@ucalgary.ca
Timothy E Shutt
6Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Hotchkiss Brain Institute, Snyder Institute for Chronic Diseases, Alberta Children's Hospital Research Institute; University of Calgary, Calgary, Canada
Roles: Conceptualization, Supervision, Funding acquisition, Visualization, Writing—original draft, Project administration, Writing—review and editing
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  • For correspondence: timothy.shutt@ucalgary.ca
Published 2 April 2025. DOI: 10.26508/lsa.202402921
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Article Information

vol. 8 no. 6 e202402921
DOI 
https://doi.org/10.26508/lsa.202402921
PubMed 
40175090

Published By 
Life Science Alliance
Online ISSN 
2575-1077
History 
  • Received July 2, 2024
  • Revision received March 14, 2025
  • Accepted March 17, 2025
  • Published online April 2, 2025.

Copyright & Usage 
© 2025 Zaman et al. This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/).

Author Information

  1. Mashiat Zaman1, Conceptualization, Data curation, Formal analysis, Validation, Investigation, Visualization, Methodology, Writing—original draft, Writing—review and editing,
  2. Govinda Sharma2,*, Conceptualization, Formal analysis, Validation, Investigation, Visualization, Methodology,
  3. Walaa Almutawa2,*, Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing—original draft,
  4. Tyler GB Soule3, Investigation, Methodology,
  5. Rasha Sabouny2, Investigation, Methodology,
  6. Matt Joel3, Data curation, Formal analysis, Investigation,
  7. Armaan Mohan2, Investigation, Methodology,
  8. Cole Chute2, Investigation, Methodology,
  9. Jeffrey T Joseph4, Data curation, Formal analysis, Investigation,
  10. Gerald Pfeffer5⇑, Conceptualization, Data curation, Formal analysis, Supervision, Funding acquisition, Investigation, Writing—original draft, Writing—review and editing and
  11. Timothy E Shutt6⇑, Conceptualization, Supervision, Funding acquisition, Visualization, Writing—original draft, Project administration, Writing—review and editing
  1. 1Department of Biochemistry & Molecular Biology, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada
  2. 2Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada
  3. 3Department of Neuroscience, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada
  4. 4Hotchkiss Brain Institute, Department of Clinical Neurosciences, Department of Pathology, Cumming School of Medicine, University of Calgary, Calgary, Canada
  5. 5Hotchkiss Brain Institute, Department of Clinical Neurosciences; and Alberta Child Health Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada
  6. 6Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Hotchkiss Brain Institute, Snyder Institute for Chronic Diseases, Alberta Children's Hospital Research Institute; University of Calgary, Calgary, Canada
  1. Correspondence: gerald.pfeffer{at}ucalgary.ca
  2. timothy.shutt{at}ucalgary.ca
  1. ↵* Govinda Sharma and Walaa Almutawa contributed equally to this work

View Full Text

Funding

  • U of C | Alberta Children's Hospital Research Institute (ACHRI)

    TE Shutt
  • Canadian Government | Canadian Institutes of Health Research (CIHR)

    TE Shutt
  • New Frontiers Research Fund

    TE Shutt
  • Hotchkiss Brain Institute, University of Calgary (HBI)

    G Pfeffer
  • Canada Foundation for Innovation (CFI)

    G Pfeffer
  • Neuromuscular Genetics

    36624
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MFN2 and mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler GB Soule, Rasha Sabouny, Matt Joel, Armaan Mohan, Cole Chute, Jeffrey T Joseph, Gerald Pfeffer, Timothy E Shutt
Life Science Alliance Apr 2025, 8 (6) e202402921; DOI: 10.26508/lsa.202402921

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MFN2 and mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler GB Soule, Rasha Sabouny, Matt Joel, Armaan Mohan, Cole Chute, Jeffrey T Joseph, Gerald Pfeffer, Timothy E Shutt
Life Science Alliance Apr 2025, 8 (6) e202402921; DOI: 10.26508/lsa.202402921
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Volume 8, No. 6
June 2025
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