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Toward a mtDNA locus-specific mutation database using the LOVD platform

Authors

  • Joanna L. Elson,

    Corresponding author
    1. Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
    2. Mitochondrial Research Group, Institute of Genetic Medicine, Centre for Life, Central Parkway, Newcastle University, Newcastle upon Tyne, United Kingdom
    • Institute of Genetic Medicine, Department of Statistical Genetics, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom.
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  • Mary G. Sweeney,

    1. Neurogenetics Unit, Department of Molecular Neuroscience, National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • Vincent Procaccio,

    1. LUNAM University, Department of Biochemistry and Genetics, Angers University Hospital Angers, UMR CNRS 6214-INSERM U1083, France
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  • John W. Yarham,

    1. Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Antonio Salas,

    1. Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
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  • Qing-Peng Kong,

    1. Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, P. R. China
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  • Francois H. van der Westhuizen,

    1. Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa
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  • Robert D.S. Pitceathly,

    1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • David R. Thorburn,

    1. Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, The Royal Children's Hospital, Parkville, VIC, Australia
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  • Marie T. Lott,

    1. Center of Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA
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  • Douglas C. Wallace,

    1. Center of Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA
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  • Robert W. Taylor,

    1. Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Robert McFarland

    1. Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • For the Databases in Neurogenetics Special Issue

Abstract

The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic. In this article, we provide explanations as to why and suggest how such difficulties might be overcome. We put forward a case in support of a new Locus Specific Mutation Database (LSDB) implemented using the Leiden Open-source Variation Database (LOVD) system that will not only list primary mutations, but also present the evidence supporting their role in disease. Critically, we feel that this new database should have the capacity to store information on the observed phenotypes alongside the genetic variation, thereby facilitating our understanding of the complex and variable presentation of mtDNA disease. LOVD supports fast queries of both seen and hidden data and allows storage of sequence variants from high-throughput sequence analysis. The LOVD platform will allow construction of a secure mtDNA database; one that can fully utilize currently available data, as well as that being generated by high-throughput sequencing, to link genotype with phenotype enhancing our understanding of mitochondrial disease, with a view to providing better prognostic information. Hum Mutat 33:1352–1358, 2012. © 2012 Wiley Periodicals, Inc.

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