Nature Communications (Feb 2023)
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
- Lindsey Van Haute,
- Emily O’Connor,
- Héctor Díaz-Maldonado,
- Benjamin Munro,
- Kiran Polavarapu,
- Daniella H. Hock,
- Gautham Arunachal,
- Alkyoni Athanasiou-Fragkouli,
- Mainak Bardhan,
- Magalie Barth,
- Dominique Bonneau,
- Nicola Brunetti-Pierri,
- Gerarda Cappuccio,
- Nikeisha J. Caruana,
- Natalia Dominik,
- Himanshu Goel,
- Guy Helman,
- Henry Houlden,
- Guy Lenaers,
- Karine Mention,
- David Murphy,
- Bevinahalli Nandeesh,
- Catarina Olimpio,
- Christopher A. Powell,
- Veeramani Preethish-Kumar,
- Vincent Procaccio,
- Rocio Rius,
- Pedro Rebelo-Guiomar,
- Cas Simons,
- Seena Vengalil,
- Maha S. Zaki,
- Alban Ziegler,
- David R. Thorburn,
- David A. Stroud,
- Reza Maroofian,
- John Christodoulou,
- Claes Gustafsson,
- Atchayaram Nalini,
- Hanns Lochmüller,
- Michal Minczuk,
- Rita Horvath
Affiliations
- Lindsey Van Haute
- MRC Mitochondrial Biology Unit, University of Cambridge
- Emily O’Connor
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Héctor Díaz-Maldonado
- Department of Biochemistry and Cell Biology, University of Gothenburg
- Benjamin Munro
- Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge
- Kiran Polavarapu
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Daniella H. Hock
- Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne
- Gautham Arunachal
- Department of Human genetics, National Institute of Mental Health and Neurosciences
- Alkyoni Athanasiou-Fragkouli
- UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London
- Mainak Bardhan
- Department of Neurology, National Institute of Mental Health and Neurosciences
- Magalie Barth
- Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers
- Dominique Bonneau
- Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers
- Nicola Brunetti-Pierri
- Department of Translational Medicine, University of Naples Federico II
- Gerarda Cappuccio
- Department of Translational Medicine, University of Naples Federico II
- Nikeisha J. Caruana
- Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne
- Natalia Dominik
- UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London
- Himanshu Goel
- Hunter Genetics, Waratah, University of Newcastle
- Guy Helman
- Murdoch Children’s Research Institute
- Henry Houlden
- UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London
- Guy Lenaers
- Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers
- Karine Mention
- Pediatric Inherited Metabolic Disorders, Hôpital Jeanne de Flandre
- David Murphy
- UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London
- Bevinahalli Nandeesh
- Department of Neurology, National Institute of Mental Health and Neurosciences
- Catarina Olimpio
- Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge
- Christopher A. Powell
- MRC Mitochondrial Biology Unit, University of Cambridge
- Veeramani Preethish-Kumar
- Department of Neurology, National Institute of Mental Health and Neurosciences
- Vincent Procaccio
- Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers
- Rocio Rius
- Murdoch Children’s Research Institute
- Pedro Rebelo-Guiomar
- MRC Mitochondrial Biology Unit, University of Cambridge
- Cas Simons
- Murdoch Children’s Research Institute
- Seena Vengalil
- Department of Neurology, National Institute of Mental Health and Neurosciences
- Maha S. Zaki
- Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre
- Alban Ziegler
- Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers
- David R. Thorburn
- Murdoch Children’s Research Institute
- David A. Stroud
- Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne
- Reza Maroofian
- UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London
- John Christodoulou
- Murdoch Children’s Research Institute
- Claes Gustafsson
- Department of Biochemistry and Cell Biology, University of Gothenburg
- Atchayaram Nalini
- Department of Neurology, National Institute of Mental Health and Neurosciences
- Hanns Lochmüller
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Michal Minczuk
- MRC Mitochondrial Biology Unit, University of Cambridge
- Rita Horvath
- Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge
- DOI
- https://doi.org/10.1038/s41467-023-36277-7
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 21
Abstract
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neuromuscular transmission defect.
