Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey a...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2025-08-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.52141 |
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| author | Fei Gao Katherine R Schon Jana Vandrovcova Özlem Yayıcı Köken Sharika Raga Kireshnee Naidu Maryke Schoonen Nimita Rani Pedro Tomaselli Dipti Baskar Musambo Kapapa Ipek Polat Lindsay A Wilson Kumarasamy Thangaraj Uluç Yiş Bevinahalli N Nandeesh David Bearden Michelle Kvalsund Franclo Henning Seena Vengalil Atchayaram Nalini Claudia F. R. Sobreira Wilson Marques Haluk Topoloğlu Michael G Hanna Sireesha Yareeda Venugopalan Y Vishnu Francois H van derWesthuizen Izelle Smuts Surita Meldau Jo Wilmshurst Büşranur Çavdarlı Jeannine Heckmann Patrick F Chinnery Rita Horvath |
| author_facet | Fei Gao Katherine R Schon Jana Vandrovcova Özlem Yayıcı Köken Sharika Raga Kireshnee Naidu Maryke Schoonen Nimita Rani Pedro Tomaselli Dipti Baskar Musambo Kapapa Ipek Polat Lindsay A Wilson Kumarasamy Thangaraj Uluç Yiş Bevinahalli N Nandeesh David Bearden Michelle Kvalsund Franclo Henning Seena Vengalil Atchayaram Nalini Claudia F. R. Sobreira Wilson Marques Haluk Topoloğlu Michael G Hanna Sireesha Yareeda Venugopalan Y Vishnu Francois H van derWesthuizen Izelle Smuts Surita Meldau Jo Wilmshurst Büşranur Çavdarlı Jeannine Heckmann Patrick F Chinnery Rita Horvath |
| author_sort | Fei Gao |
| collection | DOAJ |
| description | Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole‐exome or ‐genome sequencing from undiagnosed patients with neuromuscular symptoms should be re‐analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world. |
| format | Article |
| id | doaj-art-f7596a1fa3f84524a6ae1cb520ee4e33 |
| institution | Kabale University |
| issn | 2328-9503 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj-art-f7596a1fa3f84524a6ae1cb520ee4e332025-08-20T03:41:54ZengWileyAnnals of Clinical and Translational Neurology2328-95032025-08-011281680168810.1002/acn3.52141Mitochondrial DNA disorders in neuromuscular diseases in diverse populationsFei Gao0Katherine R Schon1Jana Vandrovcova2Özlem Yayıcı Köken3Sharika Raga4Kireshnee Naidu5Maryke Schoonen6Nimita Rani7Pedro Tomaselli8Dipti Baskar9Musambo Kapapa10Ipek Polat11Lindsay A Wilson12Kumarasamy Thangaraj13Uluç Yiş14Bevinahalli N Nandeesh15David Bearden16Michelle Kvalsund17Franclo Henning18Seena Vengalil19Atchayaram Nalini20Claudia F. R. Sobreira21Wilson Marques22Haluk Topoloğlu23Michael G Hanna24Sireesha Yareeda25Venugopalan Y Vishnu26Francois H van derWesthuizen27Izelle Smuts28Surita Meldau29Jo Wilmshurst30Büşranur Çavdarlı31Jeannine Heckmann32Patrick F Chinnery33Rita Horvath34Department of Clinical Neurosciences University of Cambridge Cambridge UKDepartment of Clinical Neurosciences University of Cambridge Cambridge UKUCL Queen Square Institute of Neurology, University College London London UKDepartment of Pediatric Neurology, Faculty of Medicine Akdeniz University Antalya TurkeyDivision of Paediatric Neurology, Department of Paediatrics and Child Health Red Cross War Memorial Children's Hospital Cape Town South AfricaNeurology Research Group, Division of Neurology, Department of Medicine University of Cape Town Cape Town South AfricaFocus Area for Human Metabolomics North‐West University Potchefstroom South AfricaDepartment of Neurology All India Institute of Medical Sciences (AIIMS) Delhi IndiaDepartment of Neuroscience Clinical Hospital of Ribeirão Preto Medical School of, University of São Paulo São Paulo BrazilDepartment of Neurology National Institute of Mental Health & Neurosciences (NIMHANS) Bengaluru IndiaDepartment of Physiotherapy, School of Health Sciences University of Zambia, University Teaching Hospital Neurology Research Office Lusaka ZambiaIzmir Biomedicine and Genome Center (IBG) Izmir TurkeyUCL Queen Square Institute of Neurology, University College London London UKCSIR—Centre for Cellular and Molecular Biology (CCMB) Hyderabad Telangana IndiaPediatric Neurology Department, Faculty of Medicine Dokuz Eylül University Izmir TurkeyDepartment of Neuropathology National Institute of Mental Health & Neurosciences (NIMHANS) Bengaluru IndiaDepartment of Neurology University of Rochester Rochester New York USADepartment of Neurology University of Rochester Rochester New York USADivision of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University Cape Town South AfricaDepartment of Neurology National Institute of Mental Health & Neurosciences (NIMHANS) Bengaluru IndiaDepartment of Neurology National Institute of Mental Health & Neurosciences (NIMHANS) Bengaluru IndiaDepartment of Neuroscience Clinical Hospital of Ribeirão Preto Medical School of, University of São Paulo São Paulo BrazilDepartment of Neuroscience Clinical Hospital of Ribeirão Preto Medical School of, University of São Paulo São Paulo BrazilYeditepe University Hospitals Istanbul TurkeyUCL Queen Square Institute of Neurology, University College London London UKNizam's Institute of Medical Sciences (NIMS) Hyderabad Telangana IndiaDepartment of Neurology All India Institute of Medical Sciences (AIIMS) Delhi IndiaFocus Area for Human Metabolomics North‐West University Potchefstroom South AfricaDepartment of Paediatrics, Steve Biko Academic Hospital University of Pretoria Pretoria South AfricaDivision of Chemical Pathology, Department of Pathology University of Cape Town Medical Faculty Cape Town South AfricaDivision of Paediatric Neurology, Department of Paediatrics and Child Health Red Cross War Memorial Children's Hospital Cape Town South AfricaDepartment of Medical Genetics Ankara Bilkent City Hospital Ankara TurkeyNeuroscience Institute, University of Cape Town Cape Town South AfricaDepartment of Clinical Neurosciences University of Cambridge Cambridge UKDepartment of Clinical Neurosciences University of Cambridge Cambridge UKAbstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole‐exome or ‐genome sequencing from undiagnosed patients with neuromuscular symptoms should be re‐analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world.https://doi.org/10.1002/acn3.52141 |
| spellingShingle | Fei Gao Katherine R Schon Jana Vandrovcova Özlem Yayıcı Köken Sharika Raga Kireshnee Naidu Maryke Schoonen Nimita Rani Pedro Tomaselli Dipti Baskar Musambo Kapapa Ipek Polat Lindsay A Wilson Kumarasamy Thangaraj Uluç Yiş Bevinahalli N Nandeesh David Bearden Michelle Kvalsund Franclo Henning Seena Vengalil Atchayaram Nalini Claudia F. R. Sobreira Wilson Marques Haluk Topoloğlu Michael G Hanna Sireesha Yareeda Venugopalan Y Vishnu Francois H van derWesthuizen Izelle Smuts Surita Meldau Jo Wilmshurst Büşranur Çavdarlı Jeannine Heckmann Patrick F Chinnery Rita Horvath Mitochondrial DNA disorders in neuromuscular diseases in diverse populations Annals of Clinical and Translational Neurology |
| title | Mitochondrial DNA disorders in neuromuscular diseases in diverse populations |
| title_full | Mitochondrial DNA disorders in neuromuscular diseases in diverse populations |
| title_fullStr | Mitochondrial DNA disorders in neuromuscular diseases in diverse populations |
| title_full_unstemmed | Mitochondrial DNA disorders in neuromuscular diseases in diverse populations |
| title_short | Mitochondrial DNA disorders in neuromuscular diseases in diverse populations |
| title_sort | mitochondrial dna disorders in neuromuscular diseases in diverse populations |
| url | https://doi.org/10.1002/acn3.52141 |
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