دورية أكاديمية
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
| العنوان: | A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. |
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| المؤلفون: | Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk., Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia., Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Folland C; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Monahan G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia., Dofash L; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Johari M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., Tankard R; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia., Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Merve A; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Fernandez-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Masingue M; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Giovannini D; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Storey E; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia., Gardner M; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand., Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Henderson RD; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.; UQ Centre for Clinical Research, Herston, QLD, Australia., Robertson T; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia., Dyke J; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia., Fabian V; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia., Mastaglia F; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia., Davis MR; Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Quinlivan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom., Hammans S; Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom., Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., McLean CA; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia., Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Lamont PJ; Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia., Fahey MC; Department of Paediatrics Monash Children's Hospital, Victoria, Australia., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au. |
| مؤلفون مشاركون: | OPDM study group |
| المصدر: | Nature communications [Nat Commun] 2024 Jul 27; Vol. 15 (1), pp. 6327. Date of Electronic Publication: 2024 Jul 27. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : Nature Pub. Group |
| مواضيع طبية MeSH: | Trinucleotide Repeat Expansion*/genetics , White People*/genetics , Muscle, Skeletal*/pathology, Humans ; Male ; Female ; Adult ; Middle Aged ; ATP-Binding Cassette Transporters/genetics ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology ; Pedigree ; Aged ; Young Adult ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Adolescent ; Muscular Dystrophies |
| مستخلص: | Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG • CCG repeat motif and a specific pattern of muscle weakness. (© 2024. The Author(s).) |
| References: | Acta Neuropathol Commun. 2022 Dec 7;10(1):176. (PMID: 36476314) Acta Neuropathol Commun. 2021 Apr 23;9(1):73. (PMID: 33892814) Nat Genet. 2002 Jan;30(1):97-101. (PMID: 11731797) Am J Hum Genet. 2020 Jun 4;106(6):793-804. (PMID: 32413282) Nat Genet. 2019 Aug;51(8):1222-1232. (PMID: 31332380) Hum Mol Genet. 2000 Nov 1;9(18):2767-75. (PMID: 11063736) Acta Neuropathol Commun. 2020 Jun 3;8(1):75. (PMID: 32493488) J Med Genet. 2007 Nov;44(11):695-701. (PMID: 17660463) Nat Rev Mol Cell Biol. 2021 Sep;22(9):589-607. (PMID: 34140671) JAMA Neurol. 2021 Jul 1;78(7):853-863. (PMID: 34047774) Ann Neurol. 2022 Sep;92(3):512-526. (PMID: 35700120) Neuron. 2011 Oct 20;72(2):257-68. (PMID: 21944779) N Engl J Med. 2021 Nov 11;385(20):1868-1880. (PMID: 34758253) Lancet Neurol. 2024 Jul;23(7):725-739. (PMID: 38876750) Neuron. 2021 Jun 2;109(11):1825-1835.e5. (PMID: 33887199) Am J Hum Genet. 2015 Jun 4;96(6):955-61. (PMID: 26004201) Acta Neuropathol Commun. 2020 Nov 25;8(1):204. (PMID: 33239111) PLoS One. 2022 Jun 1;17(6):e0256411. (PMID: 35648796) Genome Med. 2022 Apr 5;14(1):38. (PMID: 35379322) Nat Biotechnol. 2021 Apr;39(4):442-450. (PMID: 33257864) Curr Opin Neurol. 2022 Oct 1;35(5):637-644. (PMID: 35942670) Genome Biol. 2015 Jan 05;16:22. (PMID: 25723102) Nat Rev Neurol. 2022 Mar;18(3):145-157. (PMID: 35022573) Nat Biotechnol. 2022 Jul;40(7):1026-1029. (PMID: 34980914) Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12787. (PMID: 34927285) Nucleic Acids Res. 2015 Feb 27;43(4):2433-41. (PMID: 25605794) Arch Neurol. 1977 Feb;34(2):89-92. (PMID: 836191) Am J Hum Genet. 2022 Mar 3;109(3):533-541. (PMID: 35148830) Nucleic Acids Res. 1999 Jan 15;27(2):573-80. (PMID: 9862982) Am J Hum Genet. 2018 Dec 6;103(6):907-917. (PMID: 30503520) Neuron. 2017 Jan 18;93(2):331-347. (PMID: 28065649) Sci Adv. 2022 Mar 4;8(9):eabm5386. (PMID: 35245110) Am J Hum Genet. 2013 Mar 7;92(3):345-53. (PMID: 23434116) Neuron. 2013 May 8;78(3):440-55. (PMID: 23602499) Bioinformatics. 2018 Sep 15;34(18):3094-3100. (PMID: 29750242) Genome Biol. 2020 Apr 28;21(1):102. (PMID: 32345345) |
| معلومات مُعتمدة: | MR/T001712/1 RCUK | Medical Research Council (MRC) |
| فهرسة مساهمة: | Investigator: P Oflazer; NA Başak; H Kayserili; G Yeşil; E Malfatti; JB Lilliker; M Wicklund; RDS Pitceathly; S Brady; B Brais; D Pellerin; S Zuchner; MC Danzi; M Grandis; GP Comi; SP Corti; E Abati; A Toscano; A Manini; A Ghia; C Tassorelli; I Quartesan; R Simone; AM Rossor; MM Reilly; L Carroll; V Straub; B Udd; Z Chen; G Bonne |
| المشرفين على المادة: | 0 (ATP-Binding Cassette Transporters) |
| SCR Disease Name: | Oculopharyngodistal Myopathy |
| تواريخ الأحداث: | Date Created: 20240727 Date Completed: 20240728 Latest Revision: 20240730 |
| رمز التحديث: | 20240730 |
| مُعرف محوري في PubMed: | PMC11283466 |
| DOI: | 10.1038/s41467-024-49950-2 |
| PMID: | 39068203 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 2041-1723 |
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| DOI: | 10.1038/s41467-024-49950-2 |