The MFN2 Q367H variant reveals a novel pathomechanism connected to 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

doi:10.26508/lsa.202402921

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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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ORCID record for Timothy E Shutt
For correspondence: timothy.shutt@ucalgary.ca

Published 2 April 2025. 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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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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