Neuromuscular Disorders
Volume 19, Issue 12 , Pages 845-848 , December 2009

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure

  • S. Bohlega

      Affiliations

    • Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    • Corresponding Author InformationCorresponding author. Address: Section of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia. Tel.: +966 1 464 7272x32819/32772.
    • ,
  • G. Van Goethem

      Affiliations

    • Department of Neurology, University Hospital Antwerp, Antwerpen, Belgium
    • Laboratory of Neurogenetics, Institute Born-Bunge, Antwerpen, Belgium
    • Department of Molecular Genetics, VIB, Antwerpen, Belgium
    • ,
  • A. Al Semari

      Affiliations

    • Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    • ,
  • A. Löfgren

      Affiliations

    • Laboratory of Neurogenetics, Institute Born-Bunge, Antwerpen, Belgium
    • Department of Molecular Genetics, VIB, Antwerpen, Belgium
    • Department of Medical Genetics, University of Antwerp, Antwerpen, Belgium
    • ,
  • M. Al Hamed

      Affiliations

    • Research Center, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    • ,
  • C. Van Broeckhoven

      Affiliations

    • Laboratory of Neurogenetics, Institute Born-Bunge, Antwerpen, Belgium
    • Department of Molecular Genetics, VIB, Antwerpen, Belgium
    • Department of Medical Genetics, University of Antwerp, Antwerpen, Belgium
    • ,
  • M. Kambouris

      Affiliations

    • Research Center, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Received 12 May 2009 ,Revised 29 August 2009 ,Accepted 2 October 2009.

References 

  1. Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene. 2005;354:162–168
  2. Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromol Med. 2003;3(3):129–146
  3. Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet. 2001;28:223–231
  4. Korhonen JA, Pande V, Holmlund V, et al. Structure–function defects of the Twinkle linker region in progressive external ophthalmoplegia. J. Mol. Biol. 2008;377:691–705
  5. Jeppesen TD, Schwartz M, Colding-Jǿrgensen E, Krag T, Hauerslev S, Vissing J. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. Neuromuscular Disord. 2008;18:306–309
  6. Vandenberghe W, Van Laere K, Debruyne F, Van Broeckhoven C, Van Goethem G. Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a twinkle mutation. Letters to the editor. Movement Disord 2009;24 (2):308.
  7. Lewis L, Hutchison W, Thyagarajan D, Dahl HH. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. J Neurol Sci. 2002;201:39–44
  8. Goffart S, Cooper HM, Tyynismaa H, Wanrooij H, Suomalaimen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet. 2009;18(2):328–340
  9. Deschauer M, Kiefer R, Blakely EL, et al. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscular Disord. 2003;13:568–572
  10. Rivera H, Blazquez A, Carretero J, et al. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. Neuromuscular Disord. 2007;17:677–680

PII: S0960-8966(09)00653-1

doi: 10.1016/j.nmd.2009.10.002

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 845-848 , December 2009

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