Nature Communications (Feb 2021)
POLRMT mutations impair mitochondrial transcription causing neurological disease
- Monika Oláhová,
- Bradley Peter,
- Zsolt Szilagyi,
- Hector Diaz-Maldonado,
- Meenakshi Singh,
- Ewen W. Sommerville,
- Emma L. Blakely,
- Jack J. Collier,
- Emily Hoberg,
- Viktor Stránecký,
- Hana Hartmannová,
- Anthony J. Bleyer,
- Kim L. McBride,
- Sasigarn A. Bowden,
- Zuzana Korandová,
- Alena Pecinová,
- Hans-Hilger Ropers,
- Kimia Kahrizi,
- Hossein Najmabadi,
- Mark A. Tarnopolsky,
- Lauren I. Brady,
- K. Nicole Weaver,
- Carlos E. Prada,
- Katrin Õunap,
- Monica H. Wojcik,
- Sander Pajusalu,
- Safoora B. Syeda,
- Lynn Pais,
- Elicia A. Estrella,
- Christine C. Bruels,
- Louis M. Kunkel,
- Peter B. Kang,
- Penelope E. Bonnen,
- Tomáš Mráček,
- Stanislav Kmoch,
- Gráinne S. Gorman,
- Maria Falkenberg,
- Claes M. Gustafsson,
- Robert W. Taylor
Affiliations
- Monika Oláhová
- Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University
- Bradley Peter
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Zsolt Szilagyi
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Hector Diaz-Maldonado
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Meenakshi Singh
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Ewen W. Sommerville
- Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University
- Emma L. Blakely
- Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University
- Jack J. Collier
- Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University
- Emily Hoberg
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Viktor Stránecký
- Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University
- Hana Hartmannová
- Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University
- Anthony J. Bleyer
- Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University
- Kim L. McBride
- Center for Cardiovascular and Pulmonary Research, Department of Pediatrics, Nationwide Children’s Hospital, The Ohio State University College of Medicine
- Sasigarn A. Bowden
- Division of Endocrinology, Nationwide Children’s Hospital, The Ohio State University College of Medicine
- Zuzana Korandová
- Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University
- Alena Pecinová
- Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences
- Hans-Hilger Ropers
- Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics
- Kimia Kahrizi
- Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
- Hossein Najmabadi
- Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
- Mark A. Tarnopolsky
- Department of Pediatric and Medicines, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Children’s Hospital
- Lauren I. Brady
- Department of Pediatric and Medicines, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Children’s Hospital
- K. Nicole Weaver
- Division of Human Genetics, Cincinnati Children’s Hospital Medical Center
- Carlos E. Prada
- Division of Human Genetics, Cincinnati Children’s Hospital Medical Center
- Katrin Õunap
- Department of Clinical Genetics, United Laboratories, Tartu University Hospital
- Monica H. Wojcik
- Broad Institute of MIT and Harvard
- Sander Pajusalu
- Department of Clinical Genetics, United Laboratories, Tartu University Hospital
- Safoora B. Syeda
- Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine
- Lynn Pais
- Center for Mendelian Genomics, Broad Institute of MIT and Harvard
- Elicia A. Estrella
- Division of Genetics & Genomics, Boston Children’s Hospital and Harvard Medical School
- Christine C. Bruels
- Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine
- Louis M. Kunkel
- Division of Genetics & Genomics, Boston Children’s Hospital and Harvard Medical School
- Peter B. Kang
- Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine
- Penelope E. Bonnen
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Tomáš Mráček
- Department of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences
- Stanislav Kmoch
- Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University
- Gráinne S. Gorman
- Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University
- Maria Falkenberg
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Claes M. Gustafsson
- Department of Medical Biochemistry and Cell Biology, University of Gothenburg
- Robert W. Taylor
- Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University
- DOI
- https://doi.org/10.1038/s41467-021-21279-0
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 13
Abstract
POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.
