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Amyotrophic Lateral Sclerosis Volume 9, 2008 - Issue 4
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ORIGINAL ARTICLE

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

Wendy J. Broom Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USACorrespondence[email protected]
,
Matthew Greenway Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin; National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Ireland
,
Ghazaleh Sadri-Vakili Department of Neurology, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Carsten Russ Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Kristen E. Auwarter Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Kelly E. Glajch Department of Neurology, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Nicolas Dupre Centre for the Study of Brain Diseases, CHUM Research Center-Notre Dame Hospital, Montreal, Quebec, Canada; Department of Neurological Sciences, CHAUQ-Enfant-Jesus, Laval University, Quebec City, Quebec, Canada; Sainte-Justine Hospital Research Center, University of Montreal, Montréal, Québec
,
Robert J. Swingler Department of Neurology, Ninewells Hospital and Medical School, Dundee, Scotland, UK
,
Shaun Purcell Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, , Boston, Massachusetts, USA
,
Caroline Hayward Medical Genetics Section, MRC Human Genetics Unit, Edinburgh, Scotland, UK
,
Peter C. Sapp Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USA; Howard Hughes Medical Institute (HHMI), Department of Biology, Massachusetts Institute of Technology, , Cambridge, Massachusetts, USA
,
Diane McKenna-Yasek Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Paul N. Valdmanis Centre for the Study of Brain Diseases, CHUM Research Center-Notre Dame Hospital, Montreal, Quebec, Canada; Sainte-Justine Hospital Research Center, University of Montreal, Montréal, Québec
,
Jean-Pierre Bouchard Department of Neurological Sciences, CHAUQ-Enfant-Jesus, Laval University, Quebec City, Quebec, Canada
,
Vincent Meininger Unité de Recherche sur la Sclérose Latérale Amyotrophique, Paris, France
,
Betsy A. Hosler Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Jonathan D. Glass Department of Neurology, Emory University School of Medicine, , Atlanta, Georgia, USA
,
Meraida Polack Department of Neurology, Emory University School of Medicine, , Atlanta, Georgia, USA
,
Guy A. Rouleau Centre for the Study of Brain Diseases, CHUM Research Center-Notre Dame Hospital, Montreal, Quebec, Canada; Sainte-Justine Hospital Research Center, University of Montreal, Montréal, Québec
,
Jang-Ho J. Cha Department of Neurology, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
,
Orla Hardiman Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin; Department of Neurology, Beaumont Hospital, Dublin, Ireland
&
Robert H. Brown Jr Day Neuromuscular Research Laboratory, Massachusetts General Hospital, , Charlestown, Massachusetts, USA
 show all
Pages 229-237 | Received 10 Aug 2007, Published online: 10 Jul 2009

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Mehmet Can Nacar & Serbulent Yigit. (2023) Lack of association of superoxide dismutase I/D variant with osteopenia/osteoporosis in Turkish postmenopausal women. Nucleosides, Nucleotides & Nucleic Acids 42:9, pages 671-682.
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Sahel Sarabandi, Hosein Effatpanah, Nasrin Sereshki, Sadra Samavarchi Tehrani & Hemen Moradi-Sardareh. (2022) 50-bp insertion/deletion polymorphism of the superoxide dismutase-1 is associated with bladder cancer risk in an Iranian population. Nucleosides, Nucleotides & Nucleic Acids 41:2, pages 154-165.
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John P. Franklin, Mimoun Azzouz & Pamela J. Shaw. (2020) SOD1-targeting therapies for neurodegenerative diseases: a review of current findings and future potential. Expert Opinion on Orphan Drugs 8:10, pages 379-392.
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Nazanin Kordestanian & Mostafa Saadat. (2017) A 50-bp Ins/Del polymorphism at the promoter region of the superoxide dismutase-1 and bipolar disorder type 1. Nordic Journal of Psychiatry 71:8, pages 570-573.
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Caroline Ingre, Anna Wuolikainen, Stefan L. Marklund, Anna Birve, Rayomand Press & Peter M. Andersen. (2016) A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:5-6, pages 452-457.
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Leslie I Grad & Neil R Cashman. (2014) Prion-like activity of Cu/Zn superoxide dismutase. Prion 8:1, pages 33-41.
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Mariusz Berdyński, Magdalena Kuźma-Kozakiewicz, Claudia Ricci, Justyna Kubiszewska, Stéphanie Millecamps, François Salachas, Anna Łusakowska, Paola Carrera, Vincent Meininger, Stefania Battistini, Hubert Kwieciński & Cezary Żekanowski. (2012) Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. Amyotrophic Lateral Sclerosis 13:1, pages 132-136.
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Will C. Guest, J. Maxwell Silverman, Edward Pokrishevsky, Megan A. O'Neill, Leslie I. Grad & Neil R. Cashman. (2011) Generalization of the Prion Hypothesis to Other Neurodegenerative Diseases: An Imperfect Fit. Journal of Toxicology and Environmental Health, Part A 74:22-24, pages 1433-1459.
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Articles from other publishers (14)

D. Duzgun Ergun, F. Doganer, G. Koc, A. Soyocak, N. Pastaci Ozsobaci & S. Ergun. (2022) The relationship of 50 bp deletion in the promoter region of SOD1 gene with viscosity and trace elements in chronic gastritis with Helicobacter Pylori: A case study. Journal of Trace Elements in Medicine and Biology 73, pages 127039.
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Ghazale Mahjoub & Iraj Saadat. (2020) Genetic polymorphisms in CAT -21A/T and SOD1 50 bp I/D genes with the risk of breast cancer. Gene Reports 19, pages 100609.
Crossref
Alireza Eftekhari, Zahra Peivand, Iraj Saadat & Mostafa Saadat. (2018) Association between Genetic Polymorphisms in Superoxide Dismutase Gene Family and Risk of Gastric Cancer. Pathology & Oncology Research 26:1, pages 335-339.
Crossref
Fatemeh Zahra Darvishi, Fariba Boroumand & Mostafa Saadat. (2019) Genotyping of a 50 bp insertion/deletion genetic variation at promoter region of the superoxide dismutase 1 (SOD1) using high resolution melting analysis. Gene Reports 15, pages 100367.
Crossref
Khyber Saify & Mostafa Saadat. (2017) Influence of a 50bp Ins/Del polymorphism at promoter of the superoxide dismutase-1 on gene expression and risk of heroin dependency. Environmental Health and Preventive Medicine 22:1.
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Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, Adama Sissoko, Kekouta Dembele, Youlouza Coulibaly, Siaka Y. Coulibaly, Guida Landoure, Abdallah Diallo, Mamadou Dolo, Housseini Dolo, Boubacar Maiga, Moussa Traore, Mamadou Karembe, Kadiatou Traore, Amadou Toure, Mariam Sylla, Arouna Togora, Souleymane Coulibaly, Sékou Fantamady Traore, Brant Hendrickson, Katherine Bricceno, Alice B. Schindler, Angela Kokkinis, Katherine G. Meilleur, Hammadoun Ali Sangho, Brehima Diakite, Yaya Kassogue, Yaya Ibrahim Coulibaly, Barrington Burnett, Youssoufa Maiga, Seydou Doumbia & Kenneth H. Fischbeck. (2016) Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?. eNeurologicalSci 3, pages 17-20.
Crossref
Leslie I. Grad, Sarah M. Fernando & Neil R. Cashman. (2015) From molecule to molecule and cell to cell: Prion-like mechanisms in amyotrophic lateral sclerosis. Neurobiology of Disease 77, pages 257-265.
Crossref
Rachele A. Saccon, Rosie K. A. Bunton-Stasyshyn, Elizabeth M.C. Fisher & Pietro Fratta. (2013) Is SOD1 loss of function involved in amyotrophic lateral sclerosis?. Brain 136:8, pages 2342-2358.
Crossref
Balajee R. Somalinga, Cameron E. Day, Shuguang Wei, Michael G. Roth & Philip J. Thomas. (2012) TDP-43 Identified from a Genome Wide RNAi Screen for SOD1 Regulators. PLoS ONE 7:4, pages e35818.
Crossref
P. Milani, S. Gagliardi, P. Bongioanni, G.S. Grieco, M. Dezza, M. Bianchi, E. Cova, M. Ceroni & C. Cereda. (2012) Effect of the 50 bp deletion polymorphism in the SOD1 promoter on SOD1 mRNA levels in Italian ALS patients. Journal of the Neurological Sciences 313:1-2, pages 75-78.
Crossref
Balajee R. Somalinga, Gregory A. Miller, Hiba T. Malik, W. Christian Wigley & Philip J. Thomas. (2011) A Screen to Identify Cellular Modulators of Soluble Levels of an Amyotrophic Lateral Sclerosis (ALS)–Causing Mutant SOD1. SLAS Discovery 16:9, pages 974-985.
Crossref
Philip M. Boone, Wojciech Wiszniewski & James R. Lupski. (2011) Genomic medicine and neurological disease. Human Genetics 130:1, pages 103-121.
Crossref
Gaku Murakami, Haruhisa Inoue, Kayoko Tsukita, Yasuyuki Asai, Yuji Amagai, Kazuhiro Aiba, Hiroki Shimogawa, Motonari Uesugi, Norio Nakatsuji & Ryosuke Takahashi. (2011) Chemical Library Screening Identifies a Small Molecule That Downregulates SOD1 Transcription for Drugs to Treat Amyotrophic Lateral Sclerosis. SLAS Discovery 16:4, pages 405-414.
Crossref
Stella Gagliardi, Emanuela Cova, Annalisa Davin, Stefania Guareschi, Kenneth Abel, Elena Alvisi, Umberto Laforenza, Roberta Ghidoni, John Richard Cashman, Mauro Ceroni & Cristina Cereda. (2010) SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis. Neurobiology of Disease 39:2, pages 198-203.
Crossref

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